esv3759751
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:tandem duplication
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:510,771
- Description:
Chr8:g.(114209291_114209311)_(113698541_113698561)dup - 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: 1369 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1369 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3759751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 112,686,312 | 112,686,332 | 113,197,062 | 113,197,082 |
| esv3759751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 113,698,541 | 113,698,561 | 114,209,291 | 114,209,311 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16583265 | tandem duplication | 2196350 | Curated | Curated | 279 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16583265 | Remapped | Perfect | NC_000008.11:g.(11 2686312_112686332) _(113197062_113197 082)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 112,686,312 | 112,686,332 | 113,197,062 | 113,197,082 |
| essv16583265 | Submitted genomic | NC_000008.10:g.(11 3698541_113698561) _(114209291_114209 311)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 113,698,541 | 113,698,561 | 114,209,291 | 114,209,311 |