esv2899346
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,001
- 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: 202 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2899346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,419,523 | 18,443,523 |
| esv2899346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,196,000 | 19,220,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7168913 | deletion | HuRef | Sequencing | Read depth | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7168913 | Remapped | Perfect | NC_000014.9:g.(?_1 8419523)_(18443523 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,419,523 | 18,443,523 |
| essv7168913 | Submitted genomic | NC_000014.8:g.(?_1 9196000)_(19220000 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,196,000 | 19,220,000 |