esv3756127
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:550,111
- Description:
Chr2:g.(205809792_205809812)_(206359883_206359903)del - Publication(s):Forbes et al. 2008, Forbes et al. 2008
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: 1447 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1448 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3756127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,945,069 | 204,945,069 | 205,495,179 | 205,495,179 |
| esv3756127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 205,809,792 | 205,809,812 | 206,359,883 | 206,359,903 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16579219 | deletion | 2121213 | Curated | Curated | 232 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16579219 | Remapped | Perfect | NC_000002.12:g.(20 4945069_204945069) _(205495179_205495 179)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,945,069 | 204,945,069 | 205,495,179 | 205,495,179 |
| essv16579219 | Submitted genomic | NC_000002.11:g.(20 5809792_205809812) _(206359883_206359 903)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 205,809,792 | 205,809,812 | 206,359,883 | 206,359,903 |