esv3008234
- 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: 676 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
esv3008234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,256,762 | 169,272,762 |
esv3008234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 169,226,000 | 169,242,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7277801 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7277801 | Remapped | Perfect | NC_000001.11:g.(?_ 169256762)_(169272 762_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,256,762 | 169,272,762 |
essv7277801 | Submitted genomic | NC_000001.10:g.(?_ 169226000)_(169242 000_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,226,000 | 169,242,000 |