esv2830358
- 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:481,415
- 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: 1064 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1065 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 24,342,848 | 24,824,262 |
| esv2830358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 24,360,965 | 24,842,379 |
| esv2830358 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 24,270,886 | 24,752,300 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099925 | duplication | D34 | SNP array | SNP genotyping analysis | Seizure | Pathogenic | Submitter | essv7099959, essv7099926, essv7100009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099925 | Remapped | Perfect | NC_000023.11:g.(?_ 24342848)_(2482426 2_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 24,342,848 | 24,824,262 |
| essv7099925 | Remapped | Perfect | NC_000023.10:g.(?_ 24360965)_(2484237 9_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 24,360,965 | 24,842,379 |
| essv7099925 | Submitted genomic | NC_000023.9:g.(?_2 4270886)_(24752300 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 24,270,886 | 24,752,300 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099925 | D34 | NCBI36: NC_000023.9:g.(?_24270886)_(24752300_?)dup | duplication | maternal | Seizure | Pathogenic | Submitter | Female | essv7099959, essv7099926, essv7100009 |