esv2864458
- 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:195
- 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: 282 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2864458 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,129,539 | 131,129,733 |
| esv2864458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 131,887,112 | 131,887,306 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7134025 | insertion | HuRef | Sequencing | Paired-end mapping | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7134025 | Remapped | Perfect | NC_000002.12:g.(13 1129539_?)_(?_1311 29733)ins304 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,129,539 | 131,129,733 |
| essv7134025 | Submitted genomic | NC_000002.11:g.(13 1887112_?)_(?_1318 87306)ins304 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 131,887,112 | 131,887,306 |