esv3276162
- 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:13,330
- 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: 566 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3276162 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 134,100,250 | 134,113,579 |
| esv3276162 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 133,785,003 | 133,798,332 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7545729 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7545729 | Remapped | Perfect | NC_000007.14:g.(13 4100250_?)_(?_1341 13579)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,250 | 134,113,579 |
| essv7545729 | Submitted genomic | NC_000007.13:g.(13 3785003_?)_(?_1337 98332)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 133,785,003 | 133,798,332 |