esv2662857
- 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:47,594
- 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: 446 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2662857 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 130,055,738 | 130,055,775 | 130,103,281 | 130,103,331 |
| esv2662857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 131,854,002 | 131,854,039 | 131,901,545 | 131,901,595 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6582201 | deletion | SAMN00006400 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,503 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6582201 | Remapped | Perfect | NC_000010.11:g.(13 0055738_130055775) _(130103281_130103 331)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 130,055,738 | 130,055,775 | 130,103,281 | 130,103,331 |
| essv6582201 | Submitted genomic | NC_000010.10:g.(13 1854002_131854039) _(131901545_131901 595)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,854,002 | 131,854,039 | 131,901,545 | 131,901,595 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6582201 | 7 | SAMN00006400 | SNP array | Probe signal intensity | Pass |