esv3567894
- 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:11,492
- 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: 519 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3567894 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 153,579,307 | 153,590,798 |
| esv3567894 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,844,765 | 152,856,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| essv9766641 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9766641 | Remapped | Perfect | NC_000023.11:g.153 579307_153590798de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 153,579,307 | 153,590,798 |
| essv9766641 | Submitted genomic | NC_000023.10:g.152 844765_152856256de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,844,765 | 152,856,256 |