esv2673826
- 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:9,735
- 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: 162 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2673826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,955,235 | 49,955,272 | 49,964,919 | 49,964,969 |
| esv2673826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,182,373 | 50,182,410 | 50,192,057 | 50,192,107 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6091973 | deletion | SAMN00000451 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,026 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6091973 | Remapped | Perfect | NC_000002.12:g.(49 955235_49955272)_( 49964919_49964969) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,955,235 | 49,955,272 | 49,964,919 | 49,964,969 |
| essv6091973 | Submitted genomic | NC_000002.11:g.(50 182373_50182410)_( 50192057_50192107) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,182,373 | 50,182,410 | 50,192,057 | 50,192,107 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6091973 | 7 | SAMN00000451 | SNP array | Probe signal intensity | Pass |