esv3567892
- 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:117,487
- 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: 625 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 626 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3567892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 18,404,408 | 18,521,894 |
esv3567892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 18,422,528 | 18,540,014 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Zygosity |
---|---|---|---|---|
essv9766639 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv9766639 | Remapped | Perfect | NC_000023.11:g.184 04408_18521894del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 18,404,408 | 18,521,894 |
essv9766639 | Submitted genomic | NC_000023.10:g.184 22528_18540014del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,422,528 | 18,540,014 |