esv1791726
- Organism: Homo sapiens
- Study:estd186 (Thevenon et al. 2012)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Publication(s):Thevenon et al. 2012
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: 381 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv1791726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 6,788,818 | 6,794,391 | 6,843,539 | 6,852,537 |
| esv1791726 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 6,848,878 | 6,854,451 | 6,903,599 | 6,912,597 |
| esv1791726 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 6,771,465 | 6,777,038 | 6,826,186 | 6,835,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number | Zygosity |
|---|---|---|---|---|---|---|---|---|---|
| essv4367667 | copy number loss | 3-1 | SNP array | SNP genotyping analysis | Cerebellar Ataxia | Likely pathogenic | Submitter | 1 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4367667 | Remapped | Perfect | NC_000001.11:g.(67 88818_6794391)_(68 43539_6852537)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 6,788,818 | 6,794,391 | 6,843,539 | 6,852,537 |
| essv4367667 | Remapped | Perfect | NC_000001.10:g.(68 48878_6854451)_(69 03599_6912597)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 6,848,878 | 6,854,451 | 6,903,599 | 6,912,597 |
| essv4367667 | Submitted genomic | NC_000001.9:g.(677 1465_6777038)_(682 6186_6835184)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 6,771,465 | 6,777,038 | 6,826,186 | 6,835,184 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv4367667 | 3 | 3-1 | qPCR | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| essv4367667 | 3-1 | NCBI36: NC_000001.9:g.(6771465_6777038)_(6826186_6835184)del | copy number loss | de novo | Cerebellar Ataxia | Likely pathogenic | Submitter | Unknown | 1 |