nstd151 (Exome Aggregation Consortium CNVs)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Exome Aggregation Consortium
- Submitter URL:
- http://exac.broadinstitute.org
- Description:
- Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (<0.5% frequency) in exome sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC) database. For every gene, we empirically estimated an index of relative intolerance to CNVs that demonstrated moderate correlation with measures of genic constraint based on single-nucleotide variation (SNV) and was independently correlated with measures of evolutionary conservation. The ExAC CNV data constitute a critical component of an integrated database spanning the spectrum of human genetic variation, aiding in the interpretation of personal genomes as well as population-based disease studies. See Variant Summary counts for nstd151 in dbVar Variant Summary.
- Project:
- PRJEB8661
- Publication(s):
- Exome Aggregation Consortium CNVs
Detailed Information: Download 49339 Variant Regions, Download 126771 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 | 4,853 | 13,409 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 4,245 | 10,139 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 2,438 | 5,476 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 1,948 | 5,814 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 2,024 | 4,778 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 2,427 | 5,606 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 2,679 | 8,101 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 1,646 | 3,732 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 2,098 | 5,203 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 2,167 | 5,985 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 2,495 | 6,032 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 2,834 | 8,052 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 1,004 | 2,350 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 1,137 | 2,356 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 1,418 | 3,175 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 2,936 | 7,578 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 2,989 | 7,944 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 930 | 2,237 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 3,809 | 10,502 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 1,326 | 3,149 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 604 | 1,367 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 1,138 | 3,217 | Remapped | NC_000022.11 |
| NT_187515.1 | Chr1|NT_187515.1 | 22 | 44 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 4 | 4 | Remapped | NT_187516.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 16 | 66 | Remapped | NT_187518.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 18 | 26 | Remapped | NT_187519.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 16 | 66 | Remapped | NT_187646.1 |
| NW_003315905.1 | Chr1|NW_003315905.1 | 4 | 10 | Remapped | NW_003315905.1 |
| NW_003315906.1 | Chr1|NW_003315906.1 | 10 | 29 | Remapped | NW_003315906.1 |
| NW_003315907.2 | Chr1|NW_003315907.2 | 9 | 10 | Remapped | NW_003315907.2 |
| NW_009646195.1 | Chr1|NW_009646195.1 | 3 | 3 | Remapped | NW_009646195.1 |
| NW_009646196.1 | Chr1|NW_009646196.1 | 1 | 9 | Remapped | NW_009646196.1 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 1 | 3 | Remapped | NW_011332687.1 |
| NW_011332688.1 | Chr1|NW_011332688.1 | 25 | 473 | Remapped | NW_011332688.1 |
| NW_014040926.1 | Chr1|NW_014040926.1 | 8 | 15 | Remapped | NW_014040926.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 23 | 62 | Remapped | NW_014040927.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 10 | 105 | Remapped | NW_017852928.1 |
| NW_018654706.1 | Chr1|NW_018654706.1 | 4 | 4 | Remapped | NW_018654706.1 |
| NW_018654708.1 | Chr1|NW_018654708.1 | 7 | 12 | Remapped | NW_018654708.1 |
| NT_187522.1 | Chr2|NT_187522.1 | 5 | 6 | Remapped | NT_187522.1 |
| NT_187525.1 | Chr2|NT_187525.1 | 1 | 3 | Remapped | NT_187525.1 |
| NT_187526.1 | Chr2|NT_187526.1 | 1 | 1 | Remapped | NT_187526.1 |
| NT_187527.1 | Chr2|NT_187527.1 | 8 | 10 | Remapped | NT_187527.1 |
| NT_187528.1 | Chr2|NT_187528.1 | 2 | 3 | Remapped | NT_187528.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 10 | 38 | Remapped | NT_187529.1 |
| NW_003315909.1 | Chr2|NW_003315909.1 | 5 | 5 | Remapped | NW_003315909.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 15 | 42 | Remapped | NW_011332690.1 |
| NW_012132915.1 | Chr2|NW_012132915.1 | 1 | 1 | Remapped | NW_012132915.1 |
| NW_015495299.1 | Chr2|NW_015495299.1 | 3 | 3 | Remapped | NW_015495299.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 12 | 16 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 12 | 16 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 15 | 21 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 12 | 16 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 12 | 16 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 15 | 21 | Remapped | NT_187532.1 |
| NT_187533.1 | Chr3|NT_187533.1 | 1 | 1 | Remapped | NT_187533.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 4 | 23 | Remapped | NT_187534.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 7 | 26 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 12 | 16 | Remapped | NT_187649.1 |
| NW_003315913.1 | Chr3|NW_003315913.1 | 1 | 1 | Remapped | NW_003315913.1 |
| NW_003871060.2 | Chr3|NW_003871060.2 | 3 | 4 | Remapped | NW_003871060.2 |
| NW_009646197.1 | Chr3|NW_009646197.1 | 12 | 13 | Remapped | NW_009646197.1 |
| NW_009646198.1 | Chr3|NW_009646198.1 | 3 | 35 | Remapped | NW_009646198.1 |
| NW_012132916.1 | Chr3|NW_012132916.1 | 5 | 6 | Remapped | NW_012132916.1 |
| NW_019805492.1 | Chr3|NW_019805492.1 | 2 | 2 | Remapped | NW_019805492.1 |
| NW_003315914.1 | Chr4|NW_003315914.1 | 5 | 7 | Remapped | NW_003315914.1 |
| NW_013171801.1 | Chr4|NW_013171801.1 | 31 | 64 | Remapped | NW_013171801.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 4 | 6 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 3 | 3 | Remapped | NT_187546.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 15 | 15 | Remapped | NT_187547.1 |
| NT_187548.1 | Chr5|NT_187548.1 | 18 | 26 | Remapped | NT_187548.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 5 | 5 | Remapped | NT_187550.1 |
| NT_187551.1 | Chr5|NT_187551.1 | 1 | 1 | Remapped | NT_187551.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 10 | 17 | Remapped | NT_187651.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 4 | 7 | Remapped | NT_187652.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 30 | 65 | Remapped | NW_003315917.2 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 2 | 2 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 30 | 36 | Remapped | NW_016107298.1 |
| NT_187552.1 | Chr6|NT_187552.1 | 2 | 5 | Remapped | NT_187552.1 |
| NT_187553.1 | Chr6|NT_187553.1 | 5 | 11 | Remapped | NT_187553.1 |
| NT_187556.1 | Chr6|NT_187556.1 | 4 | 8 | Remapped | NT_187556.1 |
| NW_013171802.1 | Chr6|NW_013171802.1 | 3 | 3 | Remapped | NW_013171802.1 |
| NW_017363815.1 | Chr6|NW_017363815.1 | 1 | 3 | Remapped | NW_017363815.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 9 | 13 | Remapped | NW_018654713.1 |
| NT_187559.1 | Chr7|NT_187559.1 | 4 | 15 | Remapped | NT_187559.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 1 | 1 | Remapped | NT_187560.1 |
| NT_187561.1 | Chr7|NT_187561.1 | 25 | 229 | Remapped | NT_187561.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 190 | 801 | Remapped | NT_187562.1 |
| NT_187564.1 | Chr7|NT_187564.1 | 2 | 3 | Remapped | NT_187564.1 |
| NW_003315922.2 | Chr7|NW_003315922.2 | 2 | 2 | Remapped | NW_003315922.2 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 16 | 29 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 18 | 63 | Remapped | NW_018654714.1 |
| NW_018654715.1 | Chr7|NW_018654715.1 | 16 | 33 | Remapped | NW_018654715.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 8 | 9 | Remapped | NT_187680.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 9 | 17 | Remapped | NT_187571.1 |
| NT_187573.1 | Chr8|NT_187573.1 | 1 | 1 | Remapped | NT_187573.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 1 | 1 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 48 | 162 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 20 | 33 | Remapped | NT_187577.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 18 | 29 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 86 | 249 | Remapped | NW_018654717.1 |
| NW_019805494.1 | Chr8|NW_019805494.1 | 12 | 53 | Remapped | NW_019805494.1 |
| NW_003315929.1 | Chr9|NW_003315929.1 | 7 | 8 | Remapped | NW_003315929.1 |
| NW_009646201.1 | Chr9|NW_009646201.1 | 30 | 54 | Remapped | NW_009646201.1 |
| NT_187580.1 | Chr10|NT_187580.1 | 4 | 7 | Remapped | NT_187580.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 3 | 268 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 4 | 4 | Remapped | NW_003315935.1 |
| NW_009646202.1 | Chr10|NW_009646202.1 | 1 | 3 | Remapped | NW_009646202.1 |
| NT_187681.1 | Chr11|NT_187681.1 | 21 | 50 | Remapped | NT_187681.1 |
| NT_187656.1 | Chr11|NT_187656.1 | 15 | 42 | Remapped | NT_187656.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 11 | 36 | Remapped | NT_187657.1 |
| NT_187583.1 | Chr11|NT_187583.1 | 6 | 63 | Remapped | NT_187583.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 9 | 32 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 22 | 25 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 23 | 26 | Remapped | NT_187586.1 |
| NW_003871073.1 | Chr11|NW_003871073.1 | 3 | 4 | Remapped | NW_003871073.1 |
| NW_009646203.1 | Chr11|NW_009646203.1 | 14 | 18 | Remapped | NW_009646203.1 |
| NW_011332695.1 | Chr11|NW_011332695.1 | 6 | 63 | Remapped | NW_011332695.1 |
| NW_015148966.1 | Chr11|NW_015148966.1 | 20 | 52 | Remapped | NW_015148966.1 |
| NW_017363816.1 | Chr11|NW_017363816.1 | 1 | 10 | Remapped | NW_017363816.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 1 | 2 | Remapped | NW_019805495.1 |
| NW_019805496.1 | Chr11|NW_019805496.1 | 20 | 49 | Remapped | NW_019805496.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 25 | 29 | Remapped | NW_019805497.1 |
| NW_019805498.1 | Chr11|NW_019805498.1 | 9 | 19 | Remapped | NW_019805498.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 45 | 198 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 5 | 6 | Remapped | NT_187587.1 |
| NT_187589.1 | Chr12|NT_187589.1 | 14 | 19 | Remapped | NT_187589.1 |
| NT_187590.1 | Chr12|NT_187590.1 | 3 | 3 | Remapped | NT_187590.1 |
| NW_003315939.2 | Chr12|NW_003315939.2 | 2 | 2 | Remapped | NW_003315939.2 |
| NW_003315942.2 | Chr12|NW_003315942.2 | 8 | 13 | Remapped | NW_003315942.2 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 17 | 30 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 39 | 168 | Remapped | NW_003571050.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 33 | 52 | Remapped | NW_011332696.1 |
| NW_011332697.1 | Chr12|NW_011332697.1 | 1 | 1 | Remapped | NW_011332697.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 7 | 15 | Remapped | NW_013171809.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 15 | 112 | Remapped | NW_018654718.1 |
| NW_018654719.1 | Chr12|NW_018654719.1 | 2 | 2 | Remapped | NW_018654719.1 |
| NT_187592.1 | Chr13|NT_187592.1 | 2 | 2 | Remapped | NT_187592.1 |
| NT_187593.1 | Chr13|NT_187593.1 | 1 | 1 | Remapped | NT_187593.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 24 | 34 | Remapped | NW_011332698.1 |
| NT_187598.1 | Chr14|NT_187598.1 | 3 | 3 | Remapped | NT_187598.1 |
| NT_187599.1 | Chr14|NT_187599.1 | 2 | 3 | Remapped | NT_187599.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 19 | 50 | Remapped | NT_187601.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 65 | 81 | Remapped | NW_018654722.1 |
| NT_187659.1 | Chr15|NT_187659.1 | 2 | 8 | Remapped | NT_187659.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 105 | 318 | Remapped | NT_187660.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 2 | 8 | Remapped | NT_187603.1 |
| NT_187604.1 | Chr15|NT_187604.1 | 3 | 19 | Remapped | NT_187604.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 7 | 7 | Remapped | NT_187605.1 |
| NT_187606.1 | Chr15|NT_187606.1 | 2 | 2 | Remapped | NT_187606.1 |
| NW_003315943.1 | Chr15|NW_003315943.1 | 12 | 26 | Remapped | NW_003315943.1 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 138 | 399 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 221 | 684 | Remapped | NT_187607.1 |
| NT_187608.1 | Chr16|NT_187608.1 | 13 | 14 | Remapped | NT_187608.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 11 | 21 | Remapped | NT_187610.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 3 | 3 | Remapped | NW_003315945.1 |
| NW_003315946.1 | Chr16|NW_003315946.1 | 3 | 3 | Remapped | NW_003315946.1 |
| NW_013171812.1 | Chr16|NW_013171812.1 | 3 | 3 | Remapped | NW_013171812.1 |
| NW_013171813.1 | Chr16|NW_013171813.1 | 13 | 21 | Remapped | NW_013171813.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 91 | 671 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 3 | 4 | Remapped | NW_018654723.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 4 | 17 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 35 | 199 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 11 | 32 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 21 | 149 | Remapped | NT_187663.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 19 | 39 | Remapped | NT_187664.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 1 | 1 | Remapped | NW_003871093.1 |
| NT_167251.2 | Chr17|NT_167251.2 | 7 | 112 | Remapped | NT_167251.2 |
| NT_187611.1 | Chr17|NT_187611.1 | 25 | 30 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 23 | 34 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 34 | 87 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 126 | 322 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 16 | 40 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 9 | 9 | Remapped | NW_003315953.2 |
| NW_003315955.1 | Chr17|NW_003315955.1 | 2 | 2 | Remapped | NW_003315955.1 |
| NW_003871091.1 | Chr17|NW_003871091.1 | 39 | 74 | Remapped | NW_003871091.1 |
| NW_003871092.1 | Chr17|NW_003871092.1 | 1 | 1 | Remapped | NW_003871092.1 |
| NW_016107299.1 | Chr17|NW_016107299.1 | 11 | 12 | Remapped | NW_016107299.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 31 | 40 | Remapped | NW_017363817.1 |
| NW_017363819.1 | Chr17|NW_017363819.1 | 16 | 21 | Remapped | NW_017363819.1 |
| NT_187617.1 | Chr18|NT_187617.1 | 4 | 5 | Remapped | NT_187617.1 |
| NW_003315956.1 | Chr18|NW_003315956.1 | 2 | 6 | Remapped | NW_003315956.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 3 | 4 | Remapped | NW_013171814.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 271 | 859 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 199 | 546 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 91 | 154 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 91 | 154 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 91 | 154 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 224 | 684 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 91 | 154 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 132 | 342 | Remapped | NW_003571055.2 |
| NT_187619.1 | Chr19|NT_187619.1 | 8 | 9 | Remapped | NT_187619.1 |
| NT_187620.1 | Chr19|NT_187620.1 | 4 | 4 | Remapped | NT_187620.1 |
| NT_187622.1 | Chr19|NT_187622.1 | 16 | 24 | Remapped | NT_187622.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 19 | 199 | Remapped | NW_003315962.1 |
| NW_003315963.1 | Chr19|NW_003315963.1 | 3 | 6 | Remapped | NW_003315963.1 |
| NW_003315964.2 | Chr19|NW_003315964.2 | 13 | 46 | Remapped | NW_003315964.2 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 12 | 22 | Remapped | NW_003315965.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 241 | 795 | Remapped | NW_003571054.1 |
| NW_009646206.1 | Chr19|NW_009646206.1 | 10 | 17 | Remapped | NW_009646206.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 37 | 72 | Remapped | NW_014040929.1 |
| NT_187623.1 | Chr20|NT_187623.1 | 6 | 6 | Remapped | NT_187623.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 35 | 69 | Remapped | NT_187624.1 |
| NT_187625.1 | Chr20|NT_187625.1 | 6 | 22 | Remapped | NT_187625.1 |
| NT_187626.1 | Chr21|NT_187626.1 | 15 | 16 | Remapped | NT_187626.1 |
| NT_187627.1 | Chr21|NT_187627.1 | 3 | 3 | Remapped | NT_187627.1 |
| NW_003315967.2 | Chr21|NW_003315967.2 | 1 | 1 | Remapped | NW_003315967.2 |
| NW_003315970.2 | Chr21|NW_003315970.2 | 4 | 4 | Remapped | NW_003315970.2 |
| NT_187682.1 | Chr22|NT_187682.1 | 8 | 17 | Remapped | NT_187682.1 |
| NW_004504305.1 | Chr22|NW_004504305.1 | 7 | 16 | Remapped | NW_004504305.1 |
| NW_009646207.1 | Chr22|NW_009646207.1 | 4 | 11 | Remapped | NW_009646207.1 |
| NW_015148969.1 | Chr22|NW_015148969.1 | 14 | 33 | Remapped | NW_015148969.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 5 | 7 | Remapped | NT_187629.1 |
| NT_187630.1 | Chr22|NT_187630.1 | 6 | 8 | Remapped | NT_187630.1 |
| NT_187631.1 | Chr22|NT_187631.1 | 4 | 14 | Remapped | NT_187631.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 25 | 148 | Remapped | NT_187633.1 |
| NW_003315971.2 | Chr22|NW_003315971.2 | 7 | 16 | Remapped | NW_003315971.2 |
| NW_003315972.2 | Chr22|NW_003315972.2 | 6 | 7 | Remapped | NW_003315972.2 |
| NW_009646209.1 | ChrY|NW_009646209.1 | 50 | 134 | 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 | 4,939 | 13,672 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 4,256 | 10,184 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 2,435 | 5,441 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 1,948 | 5,814 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 2,024 | 4,778 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 2,434 | 5,649 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 2,696 | 8,157 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 1,646 | 3,732 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 2,102 | 5,210 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 2,178 | 6,004 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 2,496 | 6,033 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 2,836 | 8,054 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 1,005 | 2,351 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 1,137 | 2,356 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 1,418 | 3,175 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 2,936 | 7,578 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 3,017 | 8,049 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 931 | 2,242 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 3,833 | 10,553 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 1,326 | 3,149 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 604 | 1,367 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 1,142 | 3,223 | Submitted | NC_000022.10 |
| 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 | 4,939 | 4,356 | 300 | 32 | 86 | 165 | 13,672 | 11,667 | 819 | 48 | 263 | 875 |
| NC_000002.11 | Chr2 | 4,256 | 4,032 | 87 | 24 | 11 | 102 | 10,184 | 9,731 | 96 | 65 | 45 | 247 |
| NC_000003.11 | Chr3 | 2,435 | 2,340 | 44 | 1 | 0 | 50 | 5,441 | 5,283 | 60 | 1 | 0 | 97 |
| NC_000004.11 | Chr4 | 1,948 | 1,883 | 25 | 0 | 0 | 40 | 5,814 | 5,698 | 39 | 0 | 0 | 77 |
| NC_000005.9 | Chr5 | 2,024 | 1,827 | 92 | 0 | 0 | 105 | 4,778 | 4,305 | 316 | 0 | 0 | 157 |
| NC_000006.11 | Chr6 | 2,434 | 2,353 | 39 | 11 | 4 | 27 | 5,649 | 5,426 | 124 | 13 | 8 | 78 |
| NC_000007.13 | Chr7 | 2,696 | 2,153 | 229 | 47 | 4 | 263 | 8,157 | 6,294 | 629 | 94 | 8 | 1,132 |
| NC_000008.10 | Chr8 | 1,646 | 1,398 | 42 | 3 | 0 | 203 | 3,732 | 3,129 | 46 | 3 | 0 | 554 |
| NC_000009.11 | Chr9 | 2,102 | 2,043 | 7 | 11 | 4 | 37 | 5,210 | 5,106 | 12 | 23 | 7 | 62 |
| NC_000010.10 | Chr10 | 2,178 | 2,061 | 44 | 50 | 11 | 12 | 6,004 | 5,346 | 152 | 205 | 19 | 282 |
| NC_000011.9 | Chr11 | 2,496 | 2,265 | 68 | 3 | 1 | 159 | 6,033 | 5,511 | 181 | 3 | 1 | 337 |
| NC_000012.11 | Chr12 | 2,836 | 2,661 | 19 | 2 | 2 | 152 | 8,054 | 7,568 | 29 | 2 | 2 | 453 |
| NC_000013.10 | Chr13 | 1,005 | 957 | 11 | 9 | 1 | 27 | 2,351 | 2,288 | 15 | 10 | 1 | 37 |
| NC_000014.8 | Chr14 | 1,137 | 1,018 | 25 | 5 | 0 | 89 | 2,356 | 2,094 | 119 | 6 | 0 | 137 |
| NC_000015.9 | Chr15 | 1,418 | 1,217 | 46 | 3 | 0 | 152 | 3,175 | 2,523 | 214 | 3 | 0 | 435 |
| NC_000016.9 | Chr16 | 2,936 | 2,487 | 80 | 4 | 0 | 365 | 7,578 | 5,944 | 189 | 4 | 0 | 1,441 |
| NC_000017.10 | Chr17 | 3,017 | 2,560 | 67 | 36 | 9 | 345 | 8,049 | 6,913 | 84 | 226 | 18 | 808 |
| NC_000018.9 | Chr18 | 931 | 883 | 32 | 6 | 1 | 9 | 2,242 | 2,176 | 39 | 7 | 5 | 15 |
| NC_000019.9 | Chr19 | 3,833 | 3,305 | 144 | 11 | 0 | 373 | 10,553 | 9,042 | 260 | 29 | 0 | 1,222 |
| NC_000020.10 | Chr20 | 1,326 | 1,162 | 111 | 6 | 0 | 47 | 3,149 | 2,911 | 134 | 7 | 0 | 97 |
| NC_000021.8 | Chr21 | 604 | 451 | 130 | 0 | 0 | 23 | 1,367 | 1,096 | 247 | 0 | 0 | 24 |
| NC_000022.10 | Chr22 | 1,142 | 909 | 137 | 30 | 1 | 65 | 3,223 | 2,716 | 222 | 51 | 3 | 231 |
Samplesets
Number of Samplesets: 7
- Sampleset ID:
- 1
- Name:
- ExAC-AFR
- Description:
- 3315 female samples and 1888 male samples
- Size:
- 5,203 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 2
- Name:
- ExAC-AMR
- Description:
- 3,535 female samples and 2,254 male samples
- Size:
- 5,789 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 3
- Name:
- ExAC-EAS
- Description:
- 2,311 female samples and 2,016 male samples
- Size:
- 4,327 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 4
- Name:
- ExAC-FIN
- Description:
- 1,223 female samples and 2,084 male samples
- Size:
- 3,307 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 5
- Name:
- ExAC-NFE
- Description:
- 14,630 female samples and 18,740 male samples
- Size:
- 33,370 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 6
- Name:
- ExAC-OTH
- Description:
- 179 female samples and 275 male samples
- Size:
- 454 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 7
- Name:
- ExAC-SAS
- Description:
- 1,869 female samples and 6,387 male samples
- Size:
- 8,256 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
Experimental Details
| Experiment ID | Type | Method | Analysis | Number of Variant Calls |
|---|---|---|---|---|
| 1 | Discovery | Sequencing | Read depth | 126,771 |