esv3264738
- 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:36
- 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: 139 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3264738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 123,764,442 | 123,764,477 |
| esv3264738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 124,685,597 | 124,685,632 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7534305 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7534305 | Remapped | Perfect | NC_000004.12:g.123 764442_123764477in sGTGAAAGTTTTTTTTTT TTTTTTGTATAATGACTT C | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 123,764,442 | 123,764,477 |
| essv7534305 | Submitted genomic | NC_000004.11:g.124 685597_124685632in sGTGAAAGTTTTTTTTTT TTTTTTGTATAATGACTT C | GRCh37 (hg19) | NC_000004.11 | Chr4 | 124,685,597 | 124,685,632 |