esv2665516
- 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:15,389
- 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: 193 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2665516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,549,631 | 7,549,668 | 7,564,969 | 7,565,019 |
| esv2665516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 7,702,227 | 7,702,264 | 7,717,565 | 7,717,615 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5627461 | deletion | SAMN00004669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,071 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5627461 | Remapped | Perfect | NC_000012.12:g.(75 49631_7549668)_(75 64969_7565019)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,549,631 | 7,549,668 | 7,564,969 | 7,565,019 |
| essv5627461 | Submitted genomic | NC_000012.11:g.(77 02227_7702264)_(77 17565_7717615)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,702,227 | 7,702,264 | 7,717,565 | 7,717,615 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5627461 | 7 | SAMN00004669 | SNP array | Probe signal intensity | Pass |