esv2665195
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:16,334
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 680 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 708 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2665195 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| esv2665195 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| esv2665195 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5403358 | deletion | SAMN00007765 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 811 |
| essv5699349 | deletion | SAMN00007716 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,441 |
| essv5702422 | deletion | SAMN00007798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,207 |
| essv5737883 | deletion | SAMN00007717 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,210 |
| essv5828485 | deletion | SAMN00007728 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,156 |
| essv6035703 | deletion | SAMN00007764 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 883 |
| essv6094799 | deletion | SAMN00007756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,140 |
| essv6170724 | deletion | SAMN00007779 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 853 |
| essv6179555 | deletion | SAMN00007714 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,155 |
| essv6305066 | deletion | SAMN00007791 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,181 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5403358 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv5699349 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv5702422 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv5737883 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv5828485 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv6035703 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv6094799 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv6170724 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv6179555 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv6305066 | Remapped | Good | NW_012132914.1:g.( 71528_71528)_(8786 1_87861)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 71,528 | 71,528 | 87,861 | 87,861 |
| essv5403358 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv5699349 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv5702422 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv5737883 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv5828485 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv6035703 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv6094799 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv6170724 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv6179555 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv6305066 | Remapped | Good | NC_000001.11:g.(12 890015_12890015)_( 12906348_12906348) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,890,015 | 12,890,015 | 12,906,348 | 12,906,348 |
| essv5403358 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv5699349 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv5702422 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv5737883 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv5828485 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv6035703 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv6094799 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv6170724 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv6179555 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 | ||
| essv6305066 | Submitted genomic | NC_000001.10:g.(12 949845_12950216)_( 12965822_12966192) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,949,845 | 12,950,216 | 12,965,822 | 12,966,192 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6179555 | 7 | SAMN00007714 | SNP array | Probe signal intensity | Pass |
| essv5699349 | 7 | SAMN00007716 | SNP array | Probe signal intensity | Pass |
| essv5737883 | 7 | SAMN00007717 | SNP array | Probe signal intensity | Pass |
| essv5828485 | 7 | SAMN00007728 | SNP array | Probe signal intensity | Pass |
| essv6094799 | 7 | SAMN00007756 | SNP array | Probe signal intensity | Pass |
| essv6035703 | 7 | SAMN00007764 | SNP array | Probe signal intensity | Pass |
| essv5403358 | 7 | SAMN00007765 | SNP array | Probe signal intensity | Pass |
| essv6170724 | 7 | SAMN00007779 | SNP array | Probe signal intensity | Pass |
| essv6305066 | 7 | SAMN00007791 | SNP array | Probe signal intensity | Pass |
| essv5702422 | 7 | SAMN00007798 | SNP array | Probe signal intensity | Pass |