esv2672582
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:25
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,811
- 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: 268 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2672582 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| esv2672582 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5428535 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
| essv5487107 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
| essv5521653 | deletion | SAMN00001177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,531 |
| essv5560161 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
| essv5561811 | deletion | SAMN00007827 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 896 |
| essv5652941 | deletion | SAMN00001136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv5783159 | deletion | SAMN00001144 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,691 |
| essv5796912 | deletion | SAMN00001108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 901 |
| essv5825167 | deletion | SAMN00007740 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,557 |
| essv5937068 | deletion | SAMN00007834 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 829 |
| essv6034821 | deletion | SAMN00007864 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 865 |
| essv6089836 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
| essv6092586 | deletion | SAMN00009139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
| essv6102394 | deletion | SAMN00000565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
| essv6137596 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
| essv6196125 | deletion | SAMN00007810 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
| essv6298904 | deletion | SAMN00001126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv6344302 | deletion | SAMN00001623 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
| essv6447935 | deletion | SAMN00000474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,357 |
| essv6459252 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
| essv6463468 | deletion | SAMN00001171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
| essv6467029 | deletion | SAMN00000575 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
| essv6512646 | deletion | SAMN00001114 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 801 |
| essv6559928 | deletion | SAMN00000483 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
| essv6563522 | deletion | SAMN00007835 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 790 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5428535 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5487107 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5521653 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5560161 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5561811 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5652941 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5783159 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5796912 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5825167 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5937068 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6034821 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6089836 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6092586 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6102394 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6137596 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6196125 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6298904 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6344302 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6447935 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6459252 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6463468 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6467029 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6512646 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6559928 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv6563522 | Remapped | Perfect | NC_000010.11:g.121 010188_121027998de lTCTACTTGTCTT | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,188 | 121,027,998 |
| essv5428535 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5487107 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5521653 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5560161 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5561811 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5652941 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5783159 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5796912 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5825167 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv5937068 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6034821 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6089836 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6092586 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6102394 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6137596 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6196125 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6298904 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6344302 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6447935 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6459252 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6463468 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6467029 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6512646 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6559928 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 | ||
| essv6563522 | Submitted genomic | NC_000010.10:g.122 769701_122787511de lTCTACTTGTCTT | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,701 | 122,787,511 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6447935 | 7 | SAMN00000474 | SNP array | Probe signal intensity | Pass |
| essv6559928 | 7 | SAMN00000483 | SNP array | Probe signal intensity | Pass |
| essv6102394 | 7 | SAMN00000565 | SNP array | Probe signal intensity | Pass |
| essv6467029 | 7 | SAMN00000575 | SNP array | Probe signal intensity | Pass |
| essv5560161 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
| essv5796912 | 7 | SAMN00001108 | SNP array | Probe signal intensity | Pass |
| essv6512646 | 7 | SAMN00001114 | SNP array | Probe signal intensity | Pass |
| essv6298904 | 7 | SAMN00001126 | SNP array | Probe signal intensity | Pass |
| essv5652941 | 7 | SAMN00001136 | SNP array | Probe signal intensity | Pass |
| essv5783159 | 7 | SAMN00001144 | SNP array | Probe signal intensity | Pass |
| essv6089836 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |
| essv6137596 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |
| essv6463468 | 7 | SAMN00001171 | SNP array | Probe signal intensity | Pass |
| essv6459252 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
| essv5521653 | 7 | SAMN00001177 | SNP array | Probe signal intensity | Pass |
| essv6344302 | 7 | SAMN00001623 | SNP array | Probe signal intensity | Pass |
| essv5825167 | 7 | SAMN00007740 | SNP array | Probe signal intensity | Pass |
| essv5487107 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
| essv5428535 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
| essv6196125 | 7 | SAMN00007810 | SNP array | Probe signal intensity | Pass |
| essv5561811 | 7 | SAMN00007827 | SNP array | Probe signal intensity | Pass |
| essv5937068 | 7 | SAMN00007834 | SNP array | Probe signal intensity | Pass |
| essv6563522 | 7 | SAMN00007835 | SNP array | Probe signal intensity | Pass |
| essv6034821 | 7 | SAMN00007864 | SNP array | Probe signal intensity | Pass |
| essv6092586 | 7 | SAMN00009139 | SNP array | Probe signal intensity | Pass |