esv3778456
- 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:438,078
- Description:
Chr3:g.(165676695_165676715)_(165238638_165238658)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: 1417 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1417 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3778456 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,520,850 | 165,520,870 | 165,958,907 | 165,958,927 |
| esv3778456 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,238,638 | 165,238,658 | 165,676,695 | 165,676,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16604120 | tandem duplication | 2196354 | Curated | Curated | 721 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16604120 | Remapped | Perfect | NC_000003.12:g.(16 5520850_165520870) _(165958907_165958 927)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,520,850 | 165,520,870 | 165,958,907 | 165,958,927 |
| essv16604120 | Submitted genomic | NC_000003.11:g.(16 5238638_165238658) _(165676695_165676 715)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,238,638 | 165,238,658 | 165,676,695 | 165,676,715 |