esv3777079
- 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:397,994
- Description:
Chr8:g.(116481001_116481401)_(116878593_116878993)dup - Publication(s):Forbes et al. 2008, Forbes et al. 2008, Stephens et al. 2009
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: 1153 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1154 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3777079 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 115,468,774 | 115,468,774 | 115,866,767 | 115,866,767 |
| esv3777079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 116,481,001 | 116,481,401 | 116,878,593 | 116,878,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16602587 | tandem duplication | 1126516 | Curated | Curated | essv16609589, essv16579858 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16602587 | Remapped | Perfect | NC_000008.11:g.(11 5468774_115468774) _(115866767_115866 767)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 115,468,774 | 115,468,774 | 115,866,767 | 115,866,767 |
| essv16602587 | Submitted genomic | NC_000008.10:g.(11 6481001_116481401) _(116878593_116878 993)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 116,481,001 | 116,481,401 | 116,878,593 | 116,878,993 |