esv3815828
- 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:278
- Description:
Chr12:g.(21465712_21465732)_(21465455_21465475)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: 150 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3815828 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 21,312,521 | 21,312,541 | 21,312,778 | 21,312,798 |
| esv3815828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 21,465,455 | 21,465,475 | 21,465,712 | 21,465,732 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16645773 | tandem duplication | 2196774 | Curated | Curated | 691 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16645773 | Remapped | Perfect | NC_000012.12:g.(21 312521_21312541)_( 21312778_21312798) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 21,312,521 | 21,312,541 | 21,312,778 | 21,312,798 |
| essv16645773 | Submitted genomic | NC_000012.11:g.(21 465455_21465475)_( 21465712_21465732) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 21,465,455 | 21,465,475 | 21,465,712 | 21,465,732 |