esv2670277
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:19
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,660
- 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: 200 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2670277 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| esv2670277 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5410921 | deletion | SAMN00007807 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,402 |
| essv5445270 | deletion | SAMN00001670 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 814 |
| essv5454685 | deletion | SAMN00001576 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,882 |
| essv5459136 | deletion | SAMN00001148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv5535996 | deletion | SAMN00014348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
| essv5600499 | deletion | SAMN00001583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,451 |
| essv5678956 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
| essv5716630 | deletion | SAMN00007812 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv5760823 | deletion | SAMN00001685 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
| essv5772960 | deletion | SAMN00001664 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 794 |
| essv5901260 | deletion | SAMN00007735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv5977695 | deletion | SAMN00000478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,349 |
| essv6215059 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv6307963 | deletion | SAMN00001591 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,475 |
| essv6368093 | deletion | SAMN00001582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv6550779 | deletion | SAMN00001156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
| essv6551543 | deletion | SAMN00001674 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
| essv6582479 | deletion | SAMN00001680 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 838 |
| essv6593295 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5410921 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5445270 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5454685 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5459136 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5535996 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5600499 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5678956 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5716630 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5760823 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5772960 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5901260 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5977695 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6215059 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6307963 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6368093 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6550779 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6551543 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6582479 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv6593295 | Remapped | Perfect | NC_000006.12:g.771 55376_77166035delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,155,376 | 77,166,035 |
| essv5410921 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5445270 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5454685 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5459136 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5535996 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5600499 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5678956 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5716630 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5760823 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5772960 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5901260 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv5977695 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6215059 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6307963 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6368093 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6550779 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6551543 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6582479 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 | ||
| essv6593295 | Submitted genomic | NC_000006.11:g.778 65093_77875752delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,865,093 | 77,875,752 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5977695 | 7 | SAMN00000478 | SNP array | Probe signal intensity | Pass |
| essv6593295 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
| essv5678956 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |
| essv5459136 | 7 | SAMN00001148 | SNP array | Probe signal intensity | Pass |
| essv6550779 | 7 | SAMN00001156 | SNP array | Probe signal intensity | Pass |
| essv6215059 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv5454685 | 7 | SAMN00001576 | SNP array | Probe signal intensity | Pass |
| essv6368093 | 7 | SAMN00001582 | SNP array | Probe signal intensity | Pass |
| essv5600499 | 7 | SAMN00001583 | SNP array | Probe signal intensity | Pass |
| essv6307963 | 7 | SAMN00001591 | SNP array | Probe signal intensity | Pass |
| essv5772960 | 7 | SAMN00001664 | SNP array | Probe signal intensity | Pass |
| essv5445270 | 7 | SAMN00001670 | SNP array | Probe signal intensity | Pass |
| essv6551543 | 7 | SAMN00001674 | SNP array | Probe signal intensity | Pass |
| essv6582479 | 7 | SAMN00001680 | SNP array | Probe signal intensity | Pass |
| essv5760823 | 7 | SAMN00001685 | SNP array | Probe signal intensity | Pass |
| essv5901260 | 7 | SAMN00007735 | SNP array | Probe signal intensity | Pass |
| essv5410921 | 7 | SAMN00007807 | SNP array | Probe signal intensity | Pass |
| essv5716630 | 7 | SAMN00007812 | SNP array | Probe signal intensity | Pass |
| essv5535996 | 7 | SAMN00014348 | SNP array | Probe signal intensity | Pass |