esv2667081
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:154,149
- 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: 1421 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1421 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2667081 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,229,588 | 111,229,622 | 111,383,701 | 111,383,736 |
| esv2667081 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 110,869,644 | 110,869,678 | 111,023,757 | 111,023,792 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6526512 | deletion | SAMN00009125 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6526512 | Remapped | Perfect | NC_000007.14:g.(11 1229588_111229622) _(111383701_111383 736)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,229,588 | 111,229,622 | 111,383,701 | 111,383,736 |
| essv6526512 | Submitted genomic | NC_000007.13:g.(11 0869644_110869678) _(111023757_111023 792)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 110,869,644 | 110,869,678 | 111,023,757 | 111,023,792 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6526512 | 7 | SAMN00009125 | SNP array | Probe signal intensity | Pass |