esv4011100
- Organism: Homo sapiens
- Study:estd236 (Kurtas et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, PCR, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,884
- Publication(s):Kurtas et al. 2018
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: 194 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4011100 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 32,859,477 | 32,866,360 |
| esv4011100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 32,716,995 | 32,723,878 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26067121 | copy number loss | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 1 | Heterozygous | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26067121 | Remapped | Perfect | NC_000008.11:g.328 59477_32866360del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 32,859,477 | 32,866,360 |
| essv26067121 | Submitted genomic | NC_000008.10:g.327 16995_32723878del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 32,716,995 | 32,723,878 |