esv2658746
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,553
- 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: 254 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2658746 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| esv2658746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5464967 | deletion | SAMN00004417 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,314 |
| essv5496524 | deletion | SAMN00001684 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv5537362 | deletion | SAMN00001585 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,431 |
| essv5541280 | deletion | SAMN00001665 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,385 |
| essv5556027 | deletion | SAMN00001582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv5563463 | deletion | SAMN00001671 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,447 |
| essv5565903 | deletion | SAMN00000482 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 982 |
| essv5585570 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv5710276 | deletion | SAMN00001681 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 791 |
| essv5777567 | deletion | SAMN00000566 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 947 |
| essv5784749 | deletion | SAMN00001580 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,552 |
| essv5833795 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv5899115 | deletion | SAMN00001627 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,454 |
| essv5924496 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv6126110 | deletion | SAMN00001586 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,356 |
| essv6169800 | deletion | SAMN00001576 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,882 |
| essv6174760 | deletion | SAMN00000568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,629 |
| essv6281127 | deletion | SAMN00000481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 950 |
| essv6334771 | deletion | SAMN00001666 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6495914 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5464967 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5496524 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5537362 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5541280 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5556027 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5563463 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5565903 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5585570 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5710276 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5777567 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5784749 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5833795 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5899115 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5924496 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6126110 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6169800 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6174760 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6281127 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6334771 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv6495914 | Remapped | Perfect | NC_000015.10:g.760 44171_76053723delT | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,044,171 | 76,053,723 |
| essv5464967 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5496524 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5537362 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5541280 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5556027 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5563463 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5565903 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5585570 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5710276 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5777567 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5784749 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5833795 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5899115 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv5924496 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6126110 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6169800 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6174760 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6281127 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6334771 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 | ||
| essv6495914 | Submitted genomic | NC_000015.9:g.7633 6512_76346064delT | GRCh37 (hg19) | NC_000015.9 | Chr15 | 76,336,512 | 76,346,064 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6495914 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
| essv6281127 | 7 | SAMN00000481 | SNP array | Probe signal intensity | Pass |
| essv5565903 | 7 | SAMN00000482 | SNP array | Probe signal intensity | Pass |
| essv5777567 | 7 | SAMN00000566 | SNP array | Probe signal intensity | Pass |
| essv6174760 | 7 | SAMN00000568 | SNP array | Probe signal intensity | Pass |
| essv5833795 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv6169800 | 7 | SAMN00001576 | SNP array | Probe signal intensity | Pass |
| essv5784749 | 7 | SAMN00001580 | SNP array | Probe signal intensity | Pass |
| essv5556027 | 7 | SAMN00001582 | SNP array | Probe signal intensity | Pass |
| essv5537362 | 7 | SAMN00001585 | SNP array | Probe signal intensity | Pass |
| essv6126110 | 7 | SAMN00001586 | SNP array | Probe signal intensity | Pass |
| essv5899115 | 7 | SAMN00001627 | SNP array | Probe signal intensity | Pass |
| essv5541280 | 7 | SAMN00001665 | SNP array | Probe signal intensity | Pass |
| essv6334771 | 7 | SAMN00001666 | SNP array | Probe signal intensity | Pass |
| essv5585570 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv5563463 | 7 | SAMN00001671 | SNP array | Probe signal intensity | Pass |
| essv5710276 | 7 | SAMN00001681 | SNP array | Probe signal intensity | Pass |
| essv5496524 | 7 | SAMN00001684 | SNP array | Probe signal intensity | Pass |
| essv5924496 | 7 | SAMN00001697 | SNP array | Probe signal intensity | Pass |
| essv5464967 | 7 | SAMN00004417 | SNP array | Probe signal intensity | Pass |