esv2664400
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,890
- 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: 525 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 530 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2664400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 246,205,582 | 246,225,471 |
| esv2664400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 246,368,884 | 246,388,773 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6094561 | deletion | SAMN00001591 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,475 |
| essv6356434 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
| essv6534943 | deletion | SAMN00007734 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,582 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6094561 | Remapped | Perfect | NC_000001.11:g.246 205582_246225471de lG | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,205,582 | 246,225,471 |
| essv6356434 | Remapped | Perfect | NC_000001.11:g.246 205582_246225471de lG | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,205,582 | 246,225,471 |
| essv6534943 | Remapped | Perfect | NC_000001.11:g.246 205582_246225471de lG | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,205,582 | 246,225,471 |
| essv6094561 | Submitted genomic | NC_000001.10:g.246 368884_246388773de lG | GRCh37 (hg19) | NC_000001.10 | Chr1 | 246,368,884 | 246,388,773 | ||
| essv6356434 | Submitted genomic | NC_000001.10:g.246 368884_246388773de lG | GRCh37 (hg19) | NC_000001.10 | Chr1 | 246,368,884 | 246,388,773 | ||
| essv6534943 | Submitted genomic | NC_000001.10:g.246 368884_246388773de lG | GRCh37 (hg19) | NC_000001.10 | Chr1 | 246,368,884 | 246,388,773 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6356434 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |
| essv6094561 | 7 | SAMN00001591 | SNP array | Probe signal intensity | Pass |
| essv6534943 | 7 | SAMN00007734 | SNP array | Probe signal intensity | Pass |