esv2668643
- 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:19,211
- 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: 200 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 200 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2668643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 15,567,817 | 15,567,854 | 15,586,977 | 15,587,027 |
| esv2668643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,678,628 | 15,678,665 | 15,697,788 | 15,697,838 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6009554 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6009554 | Remapped | Perfect | NC_000019.10:g.(15 567817_15567854)_( 15586977_15587027) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,567,817 | 15,567,854 | 15,586,977 | 15,587,027 |
| essv6009554 | Submitted genomic | NC_000019.9:g.(156 78628_15678665)_(1 5697788_15697838)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,678,628 | 15,678,665 | 15,697,788 | 15,697,838 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6009554 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |