esv2662792
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:184,523
- 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: 960 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 960 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2662792 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,887,376 | 168,071,898 |
| esv2662792 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 168,808,527 | 168,993,049 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5711494 | deletion | SAMN00801099 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,046 |
| essv6258297 | deletion | SAMN00800266 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5711494 | Remapped | Perfect | NC_000004.12:g.167 887376_168071898de lC | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,376 | 168,071,898 |
| essv6258297 | Remapped | Perfect | NC_000004.12:g.167 887376_168071898de lC | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,376 | 168,071,898 |
| essv5711494 | Submitted genomic | NC_000004.11:g.168 808527_168993049de lC | GRCh37 (hg19) | NC_000004.11 | Chr4 | 168,808,527 | 168,993,049 | ||
| essv6258297 | Submitted genomic | NC_000004.11:g.168 808527_168993049de lC | GRCh37 (hg19) | NC_000004.11 | Chr4 | 168,808,527 | 168,993,049 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6258297 | 7 | SAMN00800266 | SNP array | Probe signal intensity | Pass |
| essv5711494 | 7 | SAMN00801099 | SNP array | Probe signal intensity | Pass |