esv2861568
- 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:28,001
- 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: 379 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2861568 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 125,899,431 | 125,927,431 |
| esv2861568 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 127,588,000 | 127,616,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7131135 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7131135 | Remapped | Perfect | NC_000010.11:g.(?_ 125899431)_(125927 431_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 125,899,431 | 125,927,431 |
| essv7131135 | Submitted genomic | NC_000010.10:g.(?_ 127588000)_(127616 000_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 127,588,000 | 127,616,000 |