esv2830433
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:127,679
- 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: 892 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 893 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830433 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,236,240 | 32,363,918 |
| esv2830433 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 32,254,357 | 32,382,035 |
| esv2830433 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,164,278 | 32,291,956 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7100008 | deletion | D16 | SNP array | SNP genotyping analysis | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7100008 | Remapped | Perfect | NC_000023.11:g.(?_ 32236240)_(3236391 8_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,236,240 | 32,363,918 |
| essv7100008 | Remapped | Perfect | NC_000023.10:g.(?_ 32254357)_(3238203 5_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 32,254,357 | 32,382,035 |
| essv7100008 | Submitted genomic | NC_000023.9:g.(?_3 2164278)_(32291956 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,164,278 | 32,291,956 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7100008 | D16 | NCBI36: NC_000023.9:g.(?_32164278)_(32291956_?)del | deletion | maternal | Seizure | Uncertain significance | Submitter | Male |