esv3268939
- 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:24,020
- 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: 239 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3268939 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,051,124 | 145,075,143 |
| esv3268939 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 143,934,000 | 143,958,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7538506 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7538506 | Remapped | Good | NC_000001.11:g.(?_ 145051124)_(145075 143_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,051,124 | 145,075,143 |
| essv7538506 | Submitted genomic | NC_000001.10:g.(?_ 143934000)_(143958 000_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 143,934,000 | 143,958,000 |