esv3567861
- Organism: Homo sapiens
- Study:estd211 (Campbell et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:226,940
- Publication(s):Campbell 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: 721 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 721 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3567861 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 132,288,281 | 132,515,220 |
esv3567861 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 132,158,175 | 132,385,114 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Zygosity |
---|---|---|---|---|
essv9766608 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv9766608 | Remapped | Perfect | NC_000011.10:g.132 288281_132515220de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 132,288,281 | 132,515,220 |
essv9766608 | Submitted genomic | NC_000011.9:g.1321 58175_132385114del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 132,158,175 | 132,385,114 |