esv2671284
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,429
- 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: 264 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2671284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 53,387,498 | 53,398,926 |
| esv2671284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 53,455,191 | 53,466,619 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5545361 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
| essv6026522 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv6097099 | deletion | SAMN00001185 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,819 |
| essv6155532 | deletion | SAMN00007806 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5545361 | Remapped | Perfect | NC_000007.14:g.533 87498_53398926del5 5 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,387,498 | 53,398,926 |
| essv6026522 | Remapped | Perfect | NC_000007.14:g.533 87498_53398926del5 5 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,387,498 | 53,398,926 |
| essv6097099 | Remapped | Perfect | NC_000007.14:g.533 87498_53398926del5 5 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,387,498 | 53,398,926 |
| essv6155532 | Remapped | Perfect | NC_000007.14:g.533 87498_53398926del5 5 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,387,498 | 53,398,926 |
| essv5545361 | Submitted genomic | NC_000007.13:g.534 55191_53466619del5 5 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 53,455,191 | 53,466,619 | ||
| essv6026522 | Submitted genomic | NC_000007.13:g.534 55191_53466619del5 5 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 53,455,191 | 53,466,619 | ||
| essv6097099 | Submitted genomic | NC_000007.13:g.534 55191_53466619del5 5 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 53,455,191 | 53,466,619 | ||
| essv6155532 | Submitted genomic | NC_000007.13:g.534 55191_53466619del5 5 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 53,455,191 | 53,466,619 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6026522 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv5545361 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
| essv6097099 | 7 | SAMN00001185 | SNP array | Probe signal intensity | Pass |
| essv6155532 | 7 | SAMN00007806 | SNP array | Probe signal intensity | Pass |