esv3815824
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:complex chromosomal rearrangement
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Chr12:g.72550059_72553119inv
- Publication(s):Forbes et al. 2008, Forbes et al. 2008, Nik-Zainal et al. 2012
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: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3815824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 72,156,278 | 72,156,278 | |
| esv3815824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 72,159,339 | 72,159,339 | - |
| esv3815824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 72,550,058 | 72,550,058 | |||
| esv3815824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 72,553,119 | 72,553,119 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16645770 | intrachromosomal translocation | 1317020 | Curated | Curated | 217 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| essv16645770 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 72,156,278 | 72,156,278 | not reported |
| essv16645770 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 72,159,339 | 72,159,339 | - |
| essv16645770 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 72,550,058 | 72,550,058 | not reported | ||
| essv16645770 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 72,553,119 | 72,553,119 | - |