esv2907273
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38
- Publication(s):Pang et al. 2014
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: 120 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2907273 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 92,118,542 | 92,118,579 |
| esv2907273 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 92,512,318 | 92,512,355 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7176840 | insertion | HuRef | Sequencing | Split read mapping | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7176840 | Remapped | Perfect | NC_000012.12:g.921 18542_92118579insA ATAAAATAAAAAATATTA TCACATCATTTATCTAAA TATTCT | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 92,118,542 | 92,118,579 |
| essv7176840 | Submitted genomic | NC_000012.11:g.925 12318_92512355insA ATAAAATAAAAAATATTA TCACATCATTTATCTAAA TATTCT | GRCh37 (hg19) | NC_000012.11 | Chr12 | 92,512,318 | 92,512,355 |