esv2976806
- 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:1
- 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: 349 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2976806 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,141,261 | 36,141,261 |
| esv2976806 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 37,513,559 | 37,513,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7246373 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7246373 | Remapped | Perfect | NC_000021.9:g.3614 1261_36141262insAA A | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,141,261 | 36,141,261 |
| essv7246373 | Submitted genomic | NC_000021.8:g.3751 3559_37513560insAA A | GRCh37 (hg19) | NC_000021.8 | Chr21 | 37,513,559 | 37,513,559 |