esv2830395
- 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:129,188
- 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: 1165 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1166 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 383 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,773,726 | 31,902,913 |
| esv2830395 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,791,843 | 31,921,030 |
| esv2830395 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,701,764 | 31,830,951 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099965 | deletion | NL41 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099965 | Remapped | Perfect | NC_000023.11:g.(?_ 31773726)_(3190291 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,773,726 | 31,902,913 |
| essv7099965 | Remapped | Perfect | NC_000023.10:g.(?_ 31791843)_(3192103 0_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,791,843 | 31,921,030 |
| essv7099965 | Submitted genomic | NC_000023.9:g.(?_3 1701764)_(31830951 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,701,764 | 31,830,951 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|
| essv7099965 | NL41 | NCBI36: NC_000023.9:g.(?_31701764)_(31830951_?)del | deletion | Seizure | Uncertain significance | Submitter | Male |