esv2660464
- 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:29,930
- 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: 377 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 377 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2660464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| esv2660464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5400747 | deletion | SAMN00000456 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,333 |
| essv5429407 | deletion | SAMN00000536 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
| essv5460149 | deletion | SAMN00006529 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,277 |
| essv5534416 | deletion | SAMN00014335 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,607 |
| essv5569485 | deletion | SAMN00000423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,491 |
| essv5614154 | deletion | SAMN00006490 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,074 |
| essv5653193 | deletion | SAMN00006498 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,657 |
| essv5692224 | deletion | SAMN00006504 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv5814206 | deletion | SAMN00006486 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv5831025 | deletion | SAMN00000430 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,528 |
| essv5879944 | deletion | SAMN00000498 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
| essv6138996 | deletion | SAMN00000425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv6224066 | deletion | SAMN00006573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,689 |
| essv6240066 | deletion | SAMN00007723 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,255 |
| essv6243891 | deletion | SAMN00000459 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,590 |
| essv6374118 | deletion | SAMN00000446 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
| essv6389698 | deletion | SAMN00007755 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,123 |
| essv6490838 | deletion | SAMN00006448 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,788 |
| essv6496302 | deletion | SAMN00006468 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5400747 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5429407 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5460149 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5534416 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5569485 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5614154 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5653193 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5692224 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5814206 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5831025 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5879944 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6138996 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6224066 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6240066 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6243891 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6374118 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6389698 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6490838 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv6496302 | Remapped | Perfect | NC_000014.9:g.4403 2377_44062306del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,032,377 | 44,062,306 |
| essv5400747 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5429407 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5460149 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5534416 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5569485 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5614154 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5653193 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5692224 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5814206 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5831025 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv5879944 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6138996 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6224066 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6240066 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6243891 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6374118 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6389698 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6490838 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 | ||
| essv6496302 | Submitted genomic | NC_000014.8:g.4450 1580_44531509del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,501,580 | 44,531,509 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5569485 | 7 | SAMN00000423 | SNP array | Probe signal intensity | Pass |
| essv6138996 | 7 | SAMN00000425 | SNP array | Probe signal intensity | Pass |
| essv5831025 | 7 | SAMN00000430 | SNP array | Probe signal intensity | Pass |
| essv6374118 | 7 | SAMN00000446 | SNP array | Probe signal intensity | Pass |
| essv5400747 | 7 | SAMN00000456 | SNP array | Probe signal intensity | Pass |
| essv6243891 | 7 | SAMN00000459 | SNP array | Probe signal intensity | Pass |
| essv5879944 | 7 | SAMN00000498 | SNP array | Probe signal intensity | Pass |
| essv5429407 | 7 | SAMN00000536 | SNP array | Probe signal intensity | Pass |
| essv6490838 | 7 | SAMN00006448 | SNP array | Probe signal intensity | Pass |
| essv6496302 | 7 | SAMN00006468 | SNP array | Probe signal intensity | Pass |
| essv5814206 | 7 | SAMN00006486 | SNP array | Probe signal intensity | Pass |
| essv5614154 | 7 | SAMN00006490 | SNP array | Probe signal intensity | Pass |
| essv5653193 | 7 | SAMN00006498 | SNP array | Probe signal intensity | Pass |
| essv5692224 | 7 | SAMN00006504 | SNP array | Probe signal intensity | Pass |
| essv5460149 | 7 | SAMN00006529 | SNP array | Probe signal intensity | Pass |
| essv6224066 | 7 | SAMN00006573 | SNP array | Probe signal intensity | Pass |
| essv6240066 | 7 | SAMN00007723 | SNP array | Probe signal intensity | Pass |
| essv6389698 | 7 | SAMN00007755 | SNP array | Probe signal intensity | Pass |
| essv5534416 | 7 | SAMN00014335 | SNP array | Probe signal intensity | Pass |