esv1791727
- Organism: Homo sapiens
- Study:estd186 (Thevenon et al. 2012)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- 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: 1673 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1673 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 656 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv1791727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 6,881,057 | 6,881,057 | 7,465,140 | 7,465,140 |
| esv1791727 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 6,941,117 | 6,959,785 | 7,499,528 | 7,525,200 |
| esv1791727 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 6,863,704 | 6,882,372 | 7,422,115 | 7,447,787 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number | Zygosity |
|---|---|---|---|---|---|---|---|---|---|
| essv4367669 | copy number gain | 2-1 | Oligo aCGH | Probe signal intensity | Cerebellar Ataxia; Intellectual Disability | Likely pathogenic | Submitter | 3 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4367669 | Remapped | Perfect | NC_000001.11:g.(68 81057_6881057)_(74 65140_7465140)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 6,881,057 | 6,881,057 | 7,465,140 | 7,465,140 |
| essv4367669 | Remapped | Perfect | NC_000001.10:g.(69 41117_6959785)_(74 99528_7525200)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 6,941,117 | 6,959,785 | 7,499,528 | 7,525,200 |
| essv4367669 | Submitted genomic | NC_000001.9:g.(686 3704_6882372)_(742 2115_7447787)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 6,863,704 | 6,882,372 | 7,422,115 | 7,447,787 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv4367669 | 3 | 2-1 | qPCR | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Copy number |
|---|---|---|---|---|---|---|---|---|
| essv4367669 | 2-1 | NCBI36: NC_000001.9:g.(6863704_6882372)_(7422115_7447787)dup | copy number gain | Cerebellar Ataxia; Intellectual Disability | Likely pathogenic | Submitter | Unknown | 3 |