esv2830418
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:224,172
- Publication(s):Helbig et al. 2013
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: 1704 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1705 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2830418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,331,464 | 63,555,635 |
| esv2830418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 61,962,816 | 62,186,988 |
| esv2830418 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 61,433,260 | 61,657,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| essv7099989 | deletion | NL45 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099970 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099989 | Remapped | Perfect | NC_000020.11:g.(?_ 63331464)_(6355563 5_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,331,464 | 63,555,635 |
| essv7099989 | Remapped | Perfect | NC_000020.10:g.(?_ 61962816)_(6218698 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 61,962,816 | 62,186,988 |
| essv7099989 | Submitted genomic | NC_000020.9:g.(?_6 1433260)_(61657432 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 61,433,260 | 61,657,432 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|---|
| essv7099989 | NL45 | NCBI36: NC_000020.9:g.(?_61433260)_(61657432_?)del | deletion | paternal | Seizure | Uncertain significance | Submitter | Male | essv7099970 |