esv3298939
- 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:16,001
- 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: 338 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3298939 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 46,614,378 | 46,630,378 |
| esv3298939 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 47,526,000 | 47,542,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7568506 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7568506 | Remapped | Perfect | NC_000008.11:g.(?_ 46614378)_(4663037 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 46,614,378 | 46,630,378 |
| essv7568506 | Submitted genomic | NC_000008.10:g.(?_ 47526000)_(4754200 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 47,526,000 | 47,542,000 |