esv3787121
- 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:726,130
- Description:
Chr4:g.(180429651_180429671)_(179703543_179703563)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: 2346 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2346 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3787121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 178,782,389 | 178,782,389 | 179,508,518 | 179,508,518 |
| esv3787121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 179,703,543 | 179,703,563 | 180,429,651 | 180,429,671 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16613753 | tandem duplication | 2196909 | Curated | Curated | 64 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16613753 | Remapped | Perfect | NC_000004.12:g.(17 8782389_178782389) _(179508518_179508 518)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,782,389 | 178,782,389 | 179,508,518 | 179,508,518 |
| essv16613753 | Submitted genomic | NC_000004.11:g.(17 9703543_179703563) _(180429651_180429 671)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 179,703,543 | 179,703,563 | 180,429,651 | 180,429,671 |