estd199 (1000 Genomes Consortium Phase 1)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Bob Handsaker
- Submitter URL:
- http://www.1000genomes.org
- Description:
- Through characterising the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help understand the genetic contribution to disease. Following from the Pilot Phase, in which we established the key principles underlying the project design, we now report on the genomes of 1,092 individuals drawn from 14 populations, constructed using a combination of low-coverage whole- genome and exome targeted sequencing. By developing methodologies to combine information across multiple algorithms and diverse data sources we provide an integrated and validated haplotype map of 38 million SNPs, 1.4 million indels and over 14 thousand larger deletions. We show how individuals from different populations have different profiles of rare and common variants and that low-frequency variants show elevated geographic differentiation, which is further increased by the action of purifying selection. By measuring the excess of rare alleles, we show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, and that rare- variant load varies substantially across biological pathways. We show that each individual harbours hundreds of rare, non-coding variants, such as transcription-factor-motif disrupting changes at conserved sites. This resource, which captures up to 98% of variants at 1% frequency in populations of medical genetics focus, enables imputation of common and low-frequency variants in individuals from diverse, including admixed, populations. See Variant Summary counts for estd199 in dbVar Variant Summary.
- Project:
- PRJNA28889
- Publication(s):
- 1000 Genomes Project Consortium et al. 2012
Detailed Information: Download 22531 Variant Regions, Download 1202929 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 1,668 | 92,609 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 1,687 | 75,318 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 1,360 | 74,115 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 1,431 | 91,927 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 1,248 | 66,239 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 1,393 | 85,460 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 1,361 | 75,805 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 1,119 | 53,717 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 981 | 48,284 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 1,033 | 56,514 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 1,058 | 54,106 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 1,082 | 56,867 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 735 | 40,216 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 793 | 36,709 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 603 | 34,534 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 761 | 31,669 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 736 | 40,631 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 604 | 31,900 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 847 | 43,101 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 521 | 27,106 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 287 | 15,597 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 439 | 21,094 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 687 | 41,707 | Remapped | NC_000023.11 |
| NT_187513.1 | Unplaced|NT_187513.1 | 1 | 1 | Remapped | NT_187513.1 |
| NT_187515.1 | Chr1|NT_187515.1 | 6 | 143 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 4 | 98 | Remapped | NT_187516.1 |
| NT_187517.1 | Chr1|NT_187517.1 | 3 | 400 | Remapped | NT_187517.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 2 | 5 | Remapped | NT_187518.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 5 | 711 | Remapped | NT_187519.1 |
| NT_187521.1 | Chr1|NT_187521.1 | 1 | 343 | Remapped | NT_187521.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 2 | 5 | Remapped | NT_187646.1 |
| NW_003315905.1 | Chr1|NW_003315905.1 | 1 | 8 | Remapped | NW_003315905.1 |
| NW_009646194.1 | Chr1|NW_009646194.1 | 1 | 1 | Remapped | NW_009646194.1 |
| NW_009646195.1 | Chr1|NW_009646195.1 | 2 | 223 | Remapped | NW_009646195.1 |
| NW_009646196.1 | Chr1|NW_009646196.1 | 2 | 65 | Remapped | NW_009646196.1 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 3 | 431 | Remapped | NW_011332687.1 |
| NW_011332688.1 | Chr1|NW_011332688.1 | 4 | 1,113 | Remapped | NW_011332688.1 |
| NW_012132914.1 | Chr1|NW_012132914.1 | 3 | 77 | Remapped | NW_012132914.1 |
| NW_014040926.1 | Chr1|NW_014040926.1 | 5 | 45 | Remapped | NW_014040926.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 3 | 87 | Remapped | NW_014040927.1 |
| NW_015495298.1 | Chr1|NW_015495298.1 | 2 | 355 | Remapped | NW_015495298.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 4 | 559 | Remapped | NW_017852928.1 |
| NW_018654706.1 | Chr1|NW_018654706.1 | 1 | 38 | Remapped | NW_018654706.1 |
| NW_018654707.1 | Chr1|NW_018654707.1 | 4 | 1,039 | Remapped | NW_018654707.1 |
| NW_018654708.1 | Chr1|NW_018654708.1 | 2 | 11 | Remapped | NW_018654708.1 |
| NW_019805487.1 | Chr1|NW_019805487.1 | 1 | 85 | Remapped | NW_019805487.1 |
| NT_187523.1 | Chr2|NT_187523.1 | 7 | 202 | Remapped | NT_187523.1 |
| NT_187525.1 | Chr2|NT_187525.1 | 3 | 211 | Remapped | NT_187525.1 |
| NT_187526.1 | Chr2|NT_187526.1 | 6 | 294 | Remapped | NT_187526.1 |
| NT_187527.1 | Chr2|NT_187527.1 | 4 | 31 | Remapped | NT_187527.1 |
| NT_187528.1 | Chr2|NT_187528.1 | 1 | 120 | Remapped | NT_187528.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 2 | 111 | Remapped | NT_187529.1 |
| NT_187530.1 | Chr2|NT_187530.1 | 1 | 3 | Remapped | NT_187530.1 |
| NT_187531.1 | Chr2|NT_187531.1 | 1 | 1 | Remapped | NT_187531.1 |
| NT_187647.1 | Chr2|NT_187647.1 | 7 | 202 | Remapped | NT_187647.1 |
| NT_187648.1 | Chr2|NT_187648.1 | 2 | 134 | Remapped | NT_187648.1 |
| NW_003571033.2 | Chr2|NW_003571033.2 | 1 | 1 | Remapped | NW_003571033.2 |
| NW_011332689.1 | Chr2|NW_011332689.1 | 1 | 32 | Remapped | NW_011332689.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 4 | 63 | Remapped | NW_011332690.1 |
| NW_012132915.1 | Chr2|NW_012132915.1 | 26 | 695 | Remapped | NW_012132915.1 |
| NW_015495299.1 | Chr2|NW_015495299.1 | 3 | 60 | Remapped | NW_015495299.1 |
| NW_018654709.1 | Chr2|NW_018654709.1 | 1 | 4 | Remapped | NW_018654709.1 |
| NW_018654710.1 | Chr2|NW_018654710.1 | 2 | 12 | Remapped | NW_018654710.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 9 | 179 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 10 | 247 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 9 | 233 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 10 | 247 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 10 | 247 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 10 | 247 | Remapped | NT_187532.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 1 | 1 | Remapped | NT_187534.1 |
| NT_187535.1 | Chr3|NT_187535.1 | 2 | 7 | Remapped | NT_187535.1 |
| NT_187536.1 | Chr3|NT_187536.1 | 2 | 30 | Remapped | NT_187536.1 |
| NT_187537.1 | Chr3|NT_187537.1 | 8 | 265 | Remapped | NT_187537.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 1 | 32 | Remapped | NT_187538.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 4 | 240 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 10 | 247 | Remapped | NT_187649.1 |
| NW_003871060.2 | Chr3|NW_003871060.2 | 1 | 5 | Remapped | NW_003871060.2 |
| NW_009646197.1 | Chr3|NW_009646197.1 | 2 | 2 | Remapped | NW_009646197.1 |
| NW_011332691.1 | Chr3|NW_011332691.1 | 4 | 7 | Remapped | NW_011332691.1 |
| NW_012132916.1 | Chr3|NW_012132916.1 | 2 | 351 | Remapped | NW_012132916.1 |
| NW_017363813.1 | Chr3|NW_017363813.1 | 2 | 3 | Remapped | NW_017363813.1 |
| NW_018654711.1 | Chr3|NW_018654711.1 | 2 | 2 | Remapped | NW_018654711.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 2 | 10 | Remapped | NW_019805488.1 |
| NW_019805489.1 | Chr3|NW_019805489.1 | 4 | 104 | Remapped | NW_019805489.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 9 | 146 | Remapped | NT_187679.1 |
| NT_113793.3 | Chr4|NT_113793.3 | 1 | 1 | Remapped | NT_113793.3 |
| NT_187542.1 | Chr4|NT_187542.1 | 2 | 86 | Remapped | NT_187542.1 |
| NT_187543.1 | Chr4|NT_187543.1 | 2 | 12 | Remapped | NT_187543.1 |
| NT_187544.1 | Chr4|NT_187544.1 | 2 | 804 | Remapped | NT_187544.1 |
| NT_187545.1 | Chr4|NT_187545.1 | 5 | 312 | Remapped | NT_187545.1 |
| NT_187650.1 | Chr4|NT_187650.1 | 5 | 112 | Remapped | NT_187650.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 5 | 682 | Remapped | NW_003315915.1 |
| NW_013171800.1 | Chr4|NW_013171800.1 | 1 | 427 | Remapped | NW_013171800.1 |
| NW_013171801.1 | Chr4|NW_013171801.1 | 2 | 10 | Remapped | NW_013171801.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 1 | 9 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 1 | 176 | Remapped | NT_187546.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 2 | 40 | Remapped | NT_187547.1 |
| NT_187548.1 | Chr5|NT_187548.1 | 7 | 397 | Remapped | NT_187548.1 |
| NT_187549.1 | Chr5|NT_187549.1 | 1 | 2 | Remapped | NT_187549.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 2 | 2 | Remapped | NT_187550.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 1 | 176 | Remapped | NT_187652.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 2 | 96 | Remapped | NW_003315917.2 |
| NW_003315919.1 | Chr5|NW_003315919.1 | 1 | 1 | Remapped | NW_003315919.1 |
| NW_003315920.1 | Chr5|NW_003315920.1 | 3 | 5 | Remapped | NW_003315920.1 |
| NW_009646199.1 | Chr5|NW_009646199.1 | 1 | 1 | Remapped | NW_009646199.1 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 7 | 230 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 6 | 144 | Remapped | NW_016107298.1 |
| NT_187552.1 | Chr6|NT_187552.1 | 4 | 324 | Remapped | NT_187552.1 |
| NT_187553.1 | Chr6|NT_187553.1 | 7 | 147 | Remapped | NT_187553.1 |
| NT_187555.1 | Chr6|NT_187555.1 | 2 | 857 | Remapped | NT_187555.1 |
| NT_187556.1 | Chr6|NT_187556.1 | 4 | 45 | Remapped | NT_187556.1 |
| NW_003315921.1 | Chr6|NW_003315921.1 | 1 | 1 | Remapped | NW_003315921.1 |
| NW_004166862.2 | Chr6|NW_004166862.2 | 3 | 16 | Remapped | NW_004166862.2 |
| NW_009646200.1 | Chr6|NW_009646200.1 | 2 | 106 | Remapped | NW_009646200.1 |
| NW_012132918.1 | Chr6|NW_012132918.1 | 1 | 10 | Remapped | NW_012132918.1 |
| NW_013171803.1 | Chr6|NW_013171803.1 | 1 | 1 | Remapped | NW_013171803.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 4 | 61 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 8 | 902 | Remapped | NT_187558.1 |
| NT_187559.1 | Chr7|NT_187559.1 | 2 | 26 | Remapped | NT_187559.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 8 | 846 | Remapped | NT_187560.1 |
| NT_187561.1 | Chr7|NT_187561.1 | 1 | 58 | Remapped | NT_187561.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 18 | 787 | Remapped | NT_187562.1 |
| NT_187563.1 | Chr7|NT_187563.1 | 4 | 65 | Remapped | NT_187563.1 |
| NT_187564.1 | Chr7|NT_187564.1 | 2 | 3 | Remapped | NT_187564.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 8 | 902 | Remapped | NT_187653.1 |
| NW_012132919.1 | Chr7|NW_012132919.1 | 2 | 8 | Remapped | NW_012132919.1 |
| NW_017852929.1 | Chr7|NW_017852929.1 | 1 | 1 | Remapped | NW_017852929.1 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 3 | 25 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 1 | 6 | Remapped | NW_018654714.1 |
| NW_019805493.1 | Chr7|NW_019805493.1 | 2 | 8 | Remapped | NW_019805493.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 6 | 143 | Remapped | NT_187680.1 |
| NT_187565.1 | Chr8|NT_187565.1 | 11 | 191 | Remapped | NT_187565.1 |
| NT_187566.1 | Chr8|NT_187566.1 | 3 | 18 | Remapped | NT_187566.1 |
| NT_187567.1 | Chr8|NT_187567.1 | 3 | 573 | Remapped | NT_187567.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 4 | 322 | Remapped | NT_187568.1 |
| NT_187569.1 | Chr8|NT_187569.1 | 3 | 4 | Remapped | NT_187569.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 2 | 338 | Remapped | NT_187571.1 |
| NT_187572.1 | Chr8|NT_187572.1 | 1 | 24 | Remapped | NT_187572.1 |
| NT_187573.1 | Chr8|NT_187573.1 | 4 | 73 | Remapped | NT_187573.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 1 | 243 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 26 | 1,639 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 7 | 198 | Remapped | NT_187577.1 |
| NT_187654.1 | Chr8|NT_187654.1 | 9 | 102 | Remapped | NT_187654.1 |
| NT_187655.1 | Chr8|NT_187655.1 | 5 | 52 | Remapped | NT_187655.1 |
| NW_017852931.1 | Chr8|NW_017852931.1 | 1 | 4 | Remapped | NW_017852931.1 |
| NW_017852932.1 | Chr8|NW_017852932.1 | 1 | 2 | Remapped | NW_017852932.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 4 | 68 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 69 | 3,039 | Remapped | NW_018654717.1 |
| NW_003315930.1 | Chr9|NW_003315930.1 | 1 | 56 | Remapped | NW_003315930.1 |
| NW_003315931.1 | Chr9|NW_003315931.1 | 2 | 10 | Remapped | NW_003315931.1 |
| NW_009646201.1 | Chr9|NW_009646201.1 | 8 | 396 | Remapped | NW_009646201.1 |
| NW_013171804.1 | Chr9|NW_013171804.1 | 1 | 1 | Remapped | NW_013171804.1 |
| NW_013171805.1 | Chr9|NW_013171805.1 | 1 | 44 | Remapped | NW_013171805.1 |
| NT_187579.1 | Chr10|NT_187579.1 | 2 | 2 | Remapped | NT_187579.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 4 | 270 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 2 | 52 | Remapped | NW_003315935.1 |
| NW_009646202.1 | Chr10|NW_009646202.1 | 3 | 55 | Remapped | NW_009646202.1 |
| NW_013171806.1 | Chr10|NW_013171806.1 | 7 | 609 | Remapped | NW_013171806.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 2 | 35 | Remapped | NW_013171807.1 |
| NT_187681.1 | Chr11|NT_187681.1 | 5 | 99 | Remapped | NT_187681.1 |
| NT_187656.1 | Chr11|NT_187656.1 | 1 | 1 | Remapped | NT_187656.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 1 | 25 | Remapped | NT_187657.1 |
| NT_187581.1 | Chr11|NT_187581.1 | 4 | 337 | Remapped | NT_187581.1 |
| NT_187582.1 | Chr11|NT_187582.1 | 2 | 80 | Remapped | NT_187582.1 |
| NT_187583.1 | Chr11|NT_187583.1 | 5 | 130 | Remapped | NT_187583.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 2 | 141 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 1 | 6 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 6 | 403 | Remapped | NT_187586.1 |
| NW_003315936.1 | Chr11|NW_003315936.1 | 1 | 1 | Remapped | NW_003315936.1 |
| NW_003871074.1 | Chr11|NW_003871074.1 | 1 | 10 | Remapped | NW_003871074.1 |
| NW_009646203.1 | Chr11|NW_009646203.1 | 1 | 15 | Remapped | NW_009646203.1 |
| NW_011332695.1 | Chr11|NW_011332695.1 | 5 | 130 | Remapped | NW_011332695.1 |
| NW_013171808.1 | Chr11|NW_013171808.1 | 2 | 9 | Remapped | NW_013171808.1 |
| NW_015148966.1 | Chr11|NW_015148966.1 | 4 | 218 | Remapped | NW_015148966.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 7 | 199 | Remapped | NW_019805495.1 |
| NW_019805496.1 | Chr11|NW_019805496.1 | 4 | 22 | Remapped | NW_019805496.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 2 | 4 | Remapped | NW_019805497.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 7 | 1,291 | Remapped | NT_187658.1 |
| NT_187591.1 | Chr12|NT_187591.1 | 1 | 5 | Remapped | NT_187591.1 |
| NW_003315939.2 | Chr12|NW_003315939.2 | 1 | 1 | Remapped | NW_003315939.2 |
| NW_003315940.1 | Chr12|NW_003315940.1 | 2 | 46 | Remapped | NW_003315940.1 |
| NW_003315941.1 | Chr12|NW_003315941.1 | 1 | 106 | Remapped | NW_003315941.1 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 2 | 132 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 5 | 1,063 | Remapped | NW_003571050.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 8 | 146 | Remapped | NW_011332696.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 2 | 261 | Remapped | NW_013171809.1 |
| NW_015148967.1 | Chr12|NW_015148967.1 | 2 | 118 | Remapped | NW_015148967.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 11 | 637 | Remapped | NW_018654718.1 |
| NW_018654719.1 | Chr12|NW_018654719.1 | 1 | 29 | Remapped | NW_018654719.1 |
| NW_018654720.1 | Chr12|NW_018654720.1 | 1 | 1 | Remapped | NW_018654720.1 |
| NW_019805499.1 | Chr12|NW_019805499.1 | 4 | 113 | Remapped | NW_019805499.1 |
| NT_187592.1 | Chr13|NT_187592.1 | 4 | 456 | Remapped | NT_187592.1 |
| NT_187593.1 | Chr13|NT_187593.1 | 1 | 1 | Remapped | NT_187593.1 |
| NT_187594.1 | Chr13|NT_187594.1 | 11 | 249 | Remapped | NT_187594.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 11 | 629 | Remapped | NW_011332698.1 |
| NW_011332699.1 | Chr13|NW_011332699.1 | 2 | 25 | Remapped | NW_011332699.1 |
| NT_113796.3 | Chr14|NT_113796.3 | 1 | 19 | Remapped | NT_113796.3 |
| NT_187600.1 | Chr14|NT_187600.1 | 131 | 2,675 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 8 | 56 | Remapped | NT_187601.1 |
| NW_018654721.1 | Chr14|NW_018654721.1 | 1 | 1 | Remapped | NW_018654721.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 4 | 12 | Remapped | NW_018654722.1 |
| NT_187659.1 | Chr15|NT_187659.1 | 2 | 56 | Remapped | NT_187659.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 22 | 361 | Remapped | NT_187660.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 2 | 56 | Remapped | NT_187603.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 5 | 117 | Remapped | NT_187605.1 |
| NT_187606.1 | Chr15|NT_187606.1 | 2 | 733 | Remapped | NT_187606.1 |
| NW_003315943.1 | Chr15|NW_003315943.1 | 1 | 1 | Remapped | NW_003315943.1 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 23 | 368 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 12 | 78 | Remapped | NT_187607.1 |
| NT_187608.1 | Chr16|NT_187608.1 | 2 | 2 | Remapped | NT_187608.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 7 | 279 | Remapped | NT_187610.1 |
| NW_012132921.1 | Chr16|NW_012132921.1 | 1 | 1 | Remapped | NW_012132921.1 |
| NW_013171812.1 | Chr16|NW_013171812.1 | 1 | 1 | Remapped | NW_013171812.1 |
| NW_013171813.1 | Chr16|NW_013171813.1 | 2 | 3 | Remapped | NW_013171813.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 4 | 94 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 1 | 1 | Remapped | NW_018654723.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 5 | 67 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 12 | 633 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 13 | 1,240 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 12 | 897 | Remapped | NT_187663.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 4 | 176 | Remapped | NT_187664.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 4 | 224 | Remapped | NW_003871093.1 |
| NT_187611.1 | Chr17|NT_187611.1 | 9 | 568 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 7 | 309 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 12 | 271 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 33 | 1,655 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 15 | 1,293 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 2 | 67 | Remapped | NW_003315953.2 |
| NW_003315955.1 | Chr17|NW_003315955.1 | 3 | 95 | Remapped | NW_003315955.1 |
| NW_003871091.1 | Chr17|NW_003871091.1 | 8 | 160 | Remapped | NW_003871091.1 |
| NW_003871092.1 | Chr17|NW_003871092.1 | 4 | 183 | Remapped | NW_003871092.1 |
| NW_016107299.1 | Chr17|NW_016107299.1 | 3 | 133 | Remapped | NW_016107299.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 5 | 259 | Remapped | NW_017363817.1 |
| NW_017363818.1 | Chr17|NW_017363818.1 | 2 | 3 | Remapped | NW_017363818.1 |
| NW_017363819.1 | Chr17|NW_017363819.1 | 4 | 252 | Remapped | NW_017363819.1 |
| NT_187665.1 | Chr18|NT_187665.1 | 5 | 105 | Remapped | NT_187665.1 |
| NT_187666.1 | Chr18|NT_187666.1 | 2 | 98 | Remapped | NT_187666.1 |
| NT_187617.1 | Chr18|NT_187617.1 | 4 | 235 | Remapped | NT_187617.1 |
| NT_187618.1 | Chr18|NT_187618.1 | 1 | 1 | Remapped | NT_187618.1 |
| NW_003315956.1 | Chr18|NW_003315956.1 | 5 | 321 | Remapped | NW_003315956.1 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 4 | 21 | Remapped | NW_003315958.1 |
| NW_003315959.1 | Chr18|NW_003315959.1 | 1 | 334 | Remapped | NW_003315959.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 2 | 98 | Remapped | NW_003315961.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 2 | 120 | Remapped | NW_013171814.1 |
| NW_014040928.1 | Chr18|NW_014040928.1 | 3 | 14 | Remapped | NW_014040928.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 3 | 366 | Remapped | NW_019805503.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 36 | 1,802 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 25 | 1,326 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 13 | 528 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 13 | 528 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 13 | 528 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 18 | 633 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 13 | 528 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 25 | 1,252 | Remapped | NW_003571055.2 |
| NT_187620.1 | Chr19|NT_187620.1 | 5 | 18 | Remapped | NT_187620.1 |
| NT_187621.1 | Chr19|NT_187621.1 | 1 | 41 | Remapped | NT_187621.1 |
| NT_187622.1 | Chr19|NT_187622.1 | 3 | 368 | Remapped | NT_187622.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 7 | 52 | Remapped | NW_003315962.1 |
| NW_003315963.1 | Chr19|NW_003315963.1 | 1 | 5 | Remapped | NW_003315963.1 |
| NW_003315964.2 | Chr19|NW_003315964.2 | 4 | 494 | Remapped | NW_003315964.2 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 3 | 28 | Remapped | NW_003315965.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 22 | 1,229 | Remapped | NW_003571054.1 |
| NW_009646206.1 | Chr19|NW_009646206.1 | 6 | 297 | Remapped | NW_009646206.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 4 | 154 | Remapped | NW_014040929.1 |
| NT_187623.1 | Chr20|NT_187623.1 | 2 | 812 | Remapped | NT_187623.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 2 | 15 | Remapped | NT_187624.1 |
| NW_003315966.2 | Chr20|NW_003315966.2 | 2 | 93 | Remapped | NW_003315966.2 |
| NT_187626.1 | Chr21|NT_187626.1 | 1 | 64 | Remapped | NT_187626.1 |
| NT_187627.1 | Chr21|NT_187627.1 | 1 | 2 | Remapped | NT_187627.1 |
| NT_187628.1 | Chr21|NT_187628.1 | 1 | 1 | Remapped | NT_187628.1 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 5 | 380 | Remapped | NW_003315968.2 |
| NW_003315969.2 | Chr21|NW_003315969.2 | 1 | 1 | Remapped | NW_003315969.2 |
| NT_187629.1 | Chr22|NT_187629.1 | 7 | 431 | Remapped | NT_187629.1 |
| NT_187630.1 | Chr22|NT_187630.1 | 2 | 30 | Remapped | NT_187630.1 |
| NT_187632.1 | Chr22|NT_187632.1 | 2 | 109 | Remapped | NT_187632.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 20 | 2,770 | Remapped | NT_187633.1 |
| NW_003315972.2 | Chr22|NW_003315972.2 | 3 | 520 | Remapped | NW_003315972.2 |
| NT_187667.1 | ChrX|NT_187667.1 | 28 | 1,480 | Remapped | NT_187667.1 |
| NT_187634.1 | ChrX|NT_187634.1 | 28 | 1,480 | Remapped | NT_187634.1 |
| NT_187635.1 | ChrX|NT_187635.1 | 3 | 224 | Remapped | NT_187635.1 |
| NW_009646209.1 | ChrY|NW_009646209.1 | 1 | 35 | Remapped | NW_009646209.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 1,683 | 93,476 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 1,693 | 75,422 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 1,360 | 74,115 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 1,431 | 91,927 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 1,248 | 66,239 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,404 | 85,619 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 1,370 | 76,462 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 1,124 | 54,639 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 984 | 48,406 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 1,034 | 56,515 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 1,060 | 54,109 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 1,084 | 57,216 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 736 | 40,341 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 794 | 36,987 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 603 | 34,534 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 761 | 31,669 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 748 | 41,264 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 604 | 31,900 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 864 | 44,194 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 521 | 27,106 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 287 | 15,597 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 448 | 22,783 | Submitted | NC_000022.10 |
| NC_000023.10 | ChrX | 690 | 42,409 | Submitted | NC_000023.10 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.10 | Chr1 | 1,683 | 1,585 | 29 | 6 | 8 | 55 | 93,476 | 85,085 | 2,054 | 584 | 381 | 5,372 |
| NC_000002.11 | Chr2 | 1,693 | 1,605 | 18 | 6 | 2 | 62 | 75,422 | 71,837 | 1,495 | 137 | 24 | 1,929 |
| NC_000003.11 | Chr3 | 1,360 | 1,299 | 13 | 1 | 0 | 47 | 74,115 | 72,529 | 64 | 216 | 0 | 1,306 |
| NC_000004.11 | Chr4 | 1,431 | 1,393 | 10 | 0 | 0 | 28 | 91,927 | 89,182 | 200 | 0 | 0 | 2,545 |
| NC_000005.9 | Chr5 | 1,248 | 1,213 | 2 | 0 | 0 | 33 | 66,239 | 65,143 | 2 | 0 | 0 | 1,094 |
| NC_000006.11 | Chr6 | 1,404 | 1,354 | 9 | 1 | 11 | 29 | 85,619 | 83,835 | 55 | 2 | 159 | 1,568 |
| NC_000007.13 | Chr7 | 1,370 | 1,294 | 17 | 10 | 3 | 46 | 76,462 | 73,221 | 935 | 84 | 72 | 2,150 |
| NC_000008.10 | Chr8 | 1,124 | 972 | 2 | 2 | 1 | 147 | 54,639 | 48,089 | 2 | 489 | 25 | 6,034 |
| NC_000009.11 | Chr9 | 984 | 949 | 8 | 11 | 3 | 13 | 48,406 | 46,871 | 537 | 369 | 122 | 507 |
| NC_000010.10 | Chr10 | 1,034 | 1,003 | 5 | 5 | 1 | 20 | 56,515 | 54,763 | 126 | 602 | 1 | 1,023 |
| NC_000011.9 | Chr11 | 1,060 | 1,010 | 5 | 0 | 1 | 44 | 54,109 | 52,477 | 30 | 0 | 1 | 1,601 |
| NC_000012.11 | Chr12 | 1,084 | 1,035 | 2 | 2 | 2 | 43 | 57,216 | 53,884 | 3 | 94 | 349 | 2,886 |
| NC_000013.10 | Chr13 | 736 | 710 | 0 | 0 | 0 | 26 | 40,341 | 39,131 | 0 | 0 | 0 | 1,210 |
| NC_000014.8 | Chr14 | 794 | 615 | 29 | 5 | 1 | 144 | 36,987 | 32,345 | 1,140 | 480 | 278 | 2,744 |
| NC_000015.9 | Chr15 | 603 | 564 | 5 | 2 | 0 | 32 | 34,534 | 32,957 | 300 | 3 | 0 | 1,274 |
| NC_000016.9 | Chr16 | 761 | 712 | 1 | 13 | 0 | 35 | 31,669 | 31,119 | 1 | 23 | 0 | 526 |
| NC_000017.10 | Chr17 | 748 | 615 | 4 | 12 | 0 | 117 | 41,264 | 35,147 | 8 | 30 | 0 | 6,079 |
| NC_000018.9 | Chr18 | 604 | 578 | 0 | 0 | 0 | 26 | 31,900 | 30,306 | 0 | 0 | 0 | 1,594 |
| NC_000019.9 | Chr19 | 864 | 783 | 17 | 2 | 1 | 61 | 44,194 | 41,142 | 128 | 4 | 54 | 2,866 |
| NC_000020.10 | Chr20 | 521 | 506 | 9 | 0 | 0 | 6 | 27,106 | 25,950 | 236 | 0 | 0 | 920 |
| NC_000021.8 | Chr21 | 287 | 271 | 5 | 0 | 0 | 11 | 15,597 | 15,112 | 12 | 0 | 0 | 473 |
| NC_000022.10 | Chr22 | 448 | 397 | 19 | 1 | 3 | 28 | 22,783 | 18,161 | 251 | 22 | 1,089 | 3,260 |
| NC_000023.10 | ChrX | 690 | 631 | 24 | 1 | 3 | 31 | 42,409 | 38,605 | 1,391 | 7 | 702 | 1,704 |
Samplesets
Number of Samplesets: 2
- Sampleset ID:
- 1
- Name:
- 1000 Genomes Phase 1 Genotyped Samples
- Size:
- 1,092
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| SAMN00016971 | HG00179 | Female | FIN | Not reported |
| SAMN00016969 | HG00177 | Female | FIN | Not reported |
| SAMN00006344 | HG00126 | Male | GBR | Not reported |
| SAMN00004677 | HG00233 | Female | GBR | Not reported |
| SAMN00004646 | HG00128 | Female | GBR | Not reported |
| SAMN00006354 | HG00245 | Female | GBR | Not reported |
| SAMN00004657 | HG00139 | Male | GBR | Not reported |
| SAMN00016977 | HG00186 | Male | FIN | Not reported |
| SAMN00004642 | HG00116 | Male | GBR | Not reported |
| SAMN00004651 | HG00133 | Female | GBR | Not reported |
| SAMN00004629 | HG00103 | Male | GBR | Not reported |
| SAMN00006355 | HG00247 | Female | GBR | Not reported |
| SAMN00004668 | HG00150 | Female | GBR | Not reported |
| SAMN00004628 | HG00102 | Female | GBR | Not reported |
| SAMN00004639 | HG00113 | Male | GBR | Not reported |
| SAMN00006358 | HG00253 | Female | GBR | Not reported |
| SAMN00004653 | HG00135 | Female | GBR | Not reported |
| SAMN00006365 | HG00261 | Female | GBR | Not reported |
| SAMN00006343 | HG00125 | Female | GBR | Not reported |
| SAMN00004672 | HG00155 | Male | GBR | Not reported |
| SAMN00004664 | HG00146 | Female | GBR | Not reported |
| SAMN00016968 | HG00176 | Female | FIN | Not reported |
| SAMN00006351 | HG00242 | Male | GBR | Not reported |
| SAMN00004643 | HG00117 | Male | GBR | Not reported |
| SAMN00004680 | HG00238 | Female | GBR | Not reported |
| SAMN00004667 | HG00149 | Male | GBR | Not reported |
| SAMN00004660 | HG00142 | Male | GBR | Not reported |
| SAMN00004647 | HG00129 | Male | GBR | Not reported |
| SAMN00004656 | HG00138 | Male | GBR | Not reported |
| SAMN00006341 | HG00123 | Female | GBR | Not reported |
| SAMN00004666 | HG00148 | Male | GBR | Not reported |
| SAMN00006353 | HG00244 | Male | GBR | Not reported |
| SAMN00016980 | HG00189 | Male | FIN | Not reported |
| SAMN00004627 | HG00101 | Male | GBR | Not reported |
| SAMN00009091 | HG00250 | Female | GBR | Not reported |
| SAMN00004661 | HG00143 | Male | GBR | Not reported |
| SAMN00006342 | HG00124 | Female | GBR | Not reported |
| SAMN00004676 | HG00160 | Male | GBR | Not reported |
| SAMN00006352 | HG00243 | Male | GBR | Not reported |
| SAMN00016965 | HG00171 | Female | FIN | Not reported |
| SAMN00004679 | HG00235 | Female | GBR | Not reported |
| SAMN00004682 | HG00255 | Female | GBR | Not reported |
| SAMN00004655 | HG00137 | Female | GBR | Not reported |
| SAMN00009092 | HG00251 | Male | GBR | Not reported |
| SAMN00006350 | HG00239 | Female | GBR | Not reported |
| SAMN00004635 | HG00109 | Male | GBR | Not reported |
| SAMN00006340 | HG00122 | Female | GBR | Not reported |
| SAMN00009088 | HG00154 | Female | GBR | Not reported |
| SAMN00006364 | HG00260 | Male | GBR | Not reported |
| SAMN00006338 | HG00119 | Male | GBR | Not reported |
| SAMN00016975 | HG00183 | Male | FIN | Not reported |
| SAMN00004634 | HG00108 | Male | GBR | Not reported |
| SAMN00004670 | HG00152 | Male | GBR | Not reported |
| SAMN00016974 | HG00182 | Male | FIN | Not reported |
| SAMN00004681 | HG00240 | Female | GBR | Not reported |
| SAMN00006337 | HG00118 | Female | GBR | Not reported |
| SAMN00006357 | HG00252 | Male | GBR | Not reported |
| SAMN00016981 | HG00190 | Male | FIN | Not reported |
| SAMN00016967 | HG00174 | Female | FIN | Not reported |
| SAMN00004654 | HG00136 | Male | GBR | Not reported |
| SAMN00004636 | HG00110 | Female | GBR | Not reported |
| SAMN00006359 | HG00254 | Female | GBR | Not reported |
| SAMN00016978 | HG00187 | Male | FIN | Not reported |
| SAMN00016979 | HG00188 | Male | FIN | Not reported |
| SAMN00004626 | HG00100 | Female | GBR | Not reported |
| SAMN00009089 | HG00246 | Male | GBR | Not reported |
| SAMN00004648 | HG00130 | Female | GBR | Not reported |
| SAMN00004638 | HG00112 | Male | GBR | Not reported |
| SAMN00004622 | HG00096 | Male | GBR | Not reported |
| SAMN00006339 | HG00121 | Female | GBR | Not reported |
| SAMN00004658 | HG00140 | Male | GBR | Not reported |
| SAMN00006360 | HG00256 | Male | GBR | Not reported |
| SAMN00004625 | HG00099 | Female | GBR | Not reported |
| SAMN00004637 | HG00111 | Female | GBR | Not reported |
| SAMN00004675 | HG00158 | Female | GBR | Not reported |
| SAMN00016976 | HG00185 | Male | FIN | Not reported |
| SAMN00006349 | HG00237 | Female | GBR | Not reported |
| SAMN00004640 | HG00114 | Male | GBR | Not reported |
| SAMN00016972 | HG00180 | Female | FIN | Not reported |
| SAMN00004649 | HG00131 | Male | GBR | Not reported |
| SAMN00006362 | HG00258 | Female | GBR | Not reported |
| SAMN00004632 | HG00106 | Female | GBR | Not reported |
| SAMN00004678 | HG00234 | Male | GBR | Not reported |
| SAMN00004652 | HG00134 | Female | GBR | Not reported |
| SAMN00006356 | HG00249 | Female | GBR | Not reported |
| SAMN00006363 | HG00259 | Female | GBR | Not reported |
| SAMN00016966 | HG00173 | Female | FIN | Not reported |
| SAMN00004645 | HG00127 | Female | GBR | Not reported |
| SAMN00004673 | HG00156 | Male | GBR | Not reported |
| SAMN00004644 | HG00120 | Female | GBR | Not reported |
| SAMN00004659 | HG00141 | Male | GBR | Not reported |
| SAMN00004669 | HG00151 | Male | GBR | Not reported |
| SAMN00004623 | HG00097 | Female | GBR | Not reported |
| SAMN00004630 | HG00104 | Female | GBR | Not reported |
| SAMN00006345 | HG00159 | Male | GBR | Not reported |
| SAMN00006347 | HG00232 | Female | GBR | Not reported |
| SAMN00006361 | HG00257 | Female | GBR | Not reported |
| SAMN00006348 | HG00236 | Female | GBR | Not reported |
| SAMN00006346 | HG00231 | Female | GBR | Not reported |
| SAMN00016970 | HG00178 | Female | FIN | Not reported |
- Sampleset ID:
- 2
- Name:
- 1000 Genomes Phase 1 Discovery Samples
- Size:
- 1,151
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| SAMN00016971 | HG00179 | Female | FIN | Not reported |
| SAMN00016969 | HG00177 | Female | FIN | Not reported |
| SAMN00006344 | HG00126 | Male | GBR | Not reported |
| SAMN00004677 | HG00233 | Female | GBR | Not reported |
| SAMN00004646 | HG00128 | Female | GBR | Not reported |
| SAMN00006354 | HG00245 | Female | GBR | Not reported |
| SAMN00004657 | HG00139 | Male | GBR | Not reported |
| SAMN00016977 | HG00186 | Male | FIN | Not reported |
| SAMN00004642 | HG00116 | Male | GBR | Not reported |
| SAMN00004651 | HG00133 | Female | GBR | Not reported |
| SAMN00004629 | HG00103 | Male | GBR | Not reported |
| SAMN00006355 | HG00247 | Female | GBR | Not reported |
| SAMN00004668 | HG00150 | Female | GBR | Not reported |
| SAMN00004639 | HG00113 | Male | GBR | Not reported |
| SAMN00004628 | HG00102 | Female | GBR | Not reported |
| SAMN00006358 | HG00253 | Female | GBR | Not reported |
| SAMN00004653 | HG00135 | Female | GBR | Not reported |
| SAMN00006343 | HG00125 | Female | GBR | Not reported |
| SAMN00004672 | HG00155 | Male | GBR | Not reported |
| SAMN00004664 | HG00146 | Female | GBR | Not reported |
| SAMN00016968 | HG00176 | Female | FIN | Not reported |
| SAMN00006351 | HG00242 | Male | GBR | Not reported |
| SAMN00004643 | HG00117 | Male | GBR | Not reported |
| SAMN00004680 | HG00238 | Female | GBR | Not reported |
| SAMN00004667 | HG00149 | Male | GBR | Not reported |
| SAMN00004660 | HG00142 | Male | GBR | Not reported |
| SAMN00004656 | HG00138 | Male | GBR | Not reported |
| SAMN00004647 | HG00129 | Male | GBR | Not reported |
| SAMN00006341 | HG00123 | Female | GBR | Not reported |
| SAMN00004666 | HG00148 | Male | GBR | Not reported |
| SAMN00006353 | HG00244 | Male | GBR | Not reported |
| SAMN00016980 | HG00189 | Male | FIN | Not reported |
| SAMN00016973 | HG00181 | Male | FIN | Not reported |
| SAMN00004665 | HG00147 | Female | GBR | Not reported |
| SAMN00004627 | HG00101 | Male | GBR | Not reported |
| SAMN00009091 | HG00250 | Female | GBR | Not reported |
| SAMN00004671 | HG00153 | Female | GBR | Not reported |
| SAMN00004661 | HG00143 | Male | GBR | Not reported |
| SAMN00006342 | HG00124 | Female | GBR | Not reported |
| SAMN00004676 | HG00160 | Male | GBR | Not reported |
| SAMN00006352 | HG00243 | Male | GBR | Not reported |
| SAMN00016965 | HG00171 | Female | FIN | Not reported |
| SAMN00004679 | HG00235 | Female | GBR | Not reported |
| SAMN00004655 | HG00137 | Female | GBR | Not reported |
| SAMN00009092 | HG00251 | Male | GBR | Not reported |
| SAMN00006350 | HG00239 | Female | GBR | Not reported |
| SAMN00004635 | HG00109 | Male | GBR | Not reported |
| SAMN00006340 | HG00122 | Female | GBR | Not reported |
| SAMN00009088 | HG00154 | Female | GBR | Not reported |
| SAMN00006338 | HG00119 | Male | GBR | Not reported |
| SAMN00016975 | HG00183 | Male | FIN | Not reported |
| SAMN00004670 | HG00152 | Male | GBR | Not reported |
| SAMN00004634 | HG00108 | Male | GBR | Not reported |
| SAMN00016974 | HG00182 | Male | FIN | Not reported |
| SAMN00006337 | HG00118 | Female | GBR | Not reported |
| SAMN00004681 | HG00240 | Female | GBR | Not reported |
| SAMN00006357 | HG00252 | Male | GBR | Not reported |
| SAMN00016981 | HG00190 | Male | FIN | Not reported |
| SAMN00004674 | HG00157 | Male | GBR | Not reported |
| SAMN00016967 | HG00174 | Female | FIN | Not reported |
| SAMN00004654 | HG00136 | Male | GBR | Not reported |
| SAMN00004636 | HG00110 | Female | GBR | Not reported |
| SAMN00016978 | HG00187 | Male | FIN | Not reported |
| SAMN00016979 | HG00188 | Male | FIN | Not reported |
| SAMN00004626 | HG00100 | Female | GBR | Not reported |
| SAMN00009089 | HG00246 | Male | GBR | Not reported |
| SAMN00004648 | HG00130 | Female | GBR | Not reported |
| SAMN00004638 | HG00112 | Male | GBR | Not reported |
| SAMN00004622 | HG00096 | Male | GBR | Not reported |
| SAMN00006339 | HG00121 | Female | GBR | Not reported |
| SAMN00004658 | HG00140 | Male | GBR | Not reported |
| SAMN00004625 | HG00099 | Female | GBR | Not reported |
| SAMN00004675 | HG00158 | Female | GBR | Not reported |
| SAMN00004637 | HG00111 | Female | GBR | Not reported |
| SAMN00016976 | HG00185 | Male | FIN | Not reported |
| SAMN00006349 | HG00237 | Female | GBR | Not reported |
| SAMN00004641 | HG00115 | Male | GBR | Not reported |
| SAMN00004640 | HG00114 | Male | GBR | Not reported |
| SAMN00016972 | HG00180 | Female | FIN | Not reported |
| SAMN00004649 | HG00131 | Male | GBR | Not reported |
| SAMN00004678 | HG00234 | Male | GBR | Not reported |
| SAMN00004632 | HG00106 | Female | GBR | Not reported |
| SAMN00004652 | HG00134 | Female | GBR | Not reported |
| SAMN00006356 | HG00249 | Female | GBR | Not reported |
| SAMN00016966 | HG00173 | Female | FIN | Not reported |
| SAMN00004645 | HG00127 | Female | GBR | Not reported |
| SAMN00004624 | HG00098 | Male | GBR | Not reported |
| SAMN00004673 | HG00156 | Male | GBR | Not reported |
| SAMN00004659 | HG00141 | Male | GBR | Not reported |
| SAMN00004644 | HG00120 | Female | GBR | Not reported |
| SAMN00004669 | HG00151 | Male | GBR | Not reported |
| SAMN00004663 | HG00145 | Male | GBR | Not reported |
| SAMN00004623 | HG00097 | Female | GBR | Not reported |
| SAMN00004630 | HG00104 | Female | GBR | Not reported |
| SAMN00006345 | HG00159 | Male | GBR | Not reported |
| SAMN00006347 | HG00232 | Female | GBR | Not reported |
| SAMN00004662 | HG00144 | Female | GBR | Not reported |
| SAMN00006348 | HG00236 | Female | GBR | Not reported |
| SAMN00006346 | HG00231 | Female | GBR | Not reported |
| SAMN00016970 | HG00178 | Female | FIN | Not reported |
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Site | Number of Variant Calls |
|---|---|---|---|---|---|---|
| 1 | Discovery | Sequencing | Paired-end mapping | Illumina Genome Analyzer,Genome Analyzer II,Genome Analyzer IIx,HiSeq 2000 | Wellcome Trust Sanger Institute | 0 |
| 2 | Discovery | Sequencing | Read depth | Illumina Genome Analyzer,Genome Analyzer II,Genome Analyzer IIx,HiSeq 2000 | Yale | 0 |
| 3 | Discovery | Sequencing | Paired-end mapping | Illumina Genome Analyzer,Genome Analyzer II,Genome Analyzer IIx,HiSeq 2000 | European Molecular Biology Laboratory | 0 |
| 4 | Discovery | Sequencing | Read depth and paired-end mapping | Illumina Genome Analyzer,Genome Analyzer II,Genome Analyzer IIx,HiSeq 2000 | Broad Institute | 0 |
| 5 | Discovery | Sequencing | Split read mapping | Illumina Genome Analyzer,Genome Analyzer II,Genome Analyzer IIx,HiSeq 2000 | Leiden University Medical Centre | 0 |
| 6 | Discovery | Merging of experiments 1,2,3,4,5 | Merging of experiments 1,2,3,4,5 | See merged experiments | 1,202,929 | |
| 7 | Validation | SNP array | Probe signal intensity | Illumina Omni 2.5 | Broad Institute | 336,328 |
| 8 | Validation | PCR | Other | PTC-225 DNA Engine Tetrad Cycler (Biorad) | Wellcome Trust Sanger Institute and European Molecular Biology Laboratory | 31,421 |
| 9 | Validation | Oligo aCGH | Probe signal intensity | Agilent 2x1M CGH Microarray | The laboratory of Dr. Charles Lee at Brigham and Women's Hospital/Harvard Medical School | 349,421 |
Validations
| Experiment ID | Method | Analysis | Platform | Number of Variant Calls Validated |
|---|---|---|---|---|
| 7 | SNP array | Probe signal intensity | Illumina Omni 2.5 | 336,328 |
| 8 | PCR | Other | PTC-225 DNA Engine Tetrad Cycler (Biorad) | 31,421 |
| 9 | Oligo aCGH | Probe signal intensity | Agilent 2x1M CGH Microarray | 349,421 |