esv3247829
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,001
- Publication(s):Pang et al. 2014
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: 353 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3247829 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 9,184,274 | 9,210,274 |
| esv3247829 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 9,186,000 | 9,212,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7517396 | deletion | HuRef | Sequencing | Read depth | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7517396 | Remapped | Perfect | NC_000004.12:g.(?_ 9184274)_(9210274_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,274 | 9,210,274 |
| essv7517396 | Submitted genomic | NC_000004.11:g.(?_ 9186000)_(9212000_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,000 | 9,212,000 |