esv2830681
- 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:12,509
- 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: 499 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 499 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2830681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,190,953 | 10,203,461 |
| esv2830681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 10,192,577 | 10,205,085 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7100248 | deletion | HuRef | Sequencing | Paired-end mapping | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7100248 | Remapped | Perfect | NC_000004.12:g.(10 190953_?)_(?_10203 461)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,190,953 | 10,203,461 |
| essv7100248 | Submitted genomic | NC_000004.11:g.(10 192577_?)_(?_10205 085)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,192,577 | 10,205,085 |