esv2830398
- 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:263,821
- 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: 1097 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1098 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830398 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 5,700,199 | 5,964,019 |
| esv2830398 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 5,618,240 | 5,882,060 |
| esv2830398 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 5,628,240 | 5,892,060 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099968 | duplication | NL44 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099968 | Remapped | Perfect | NC_000023.11:g.(?_ 5700199)_(5964019_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 5,700,199 | 5,964,019 |
| essv7099968 | Remapped | Perfect | NC_000023.10:g.(?_ 5618240)_(5882060_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 5,618,240 | 5,882,060 |
| essv7099968 | Submitted genomic | NC_000023.9:g.(?_5 628240)_(5892060_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 5,628,240 | 5,892,060 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099968 | NL44 | NCBI36: NC_000023.9:g.(?_5628240)_(5892060_?)dup | duplication | maternal | Seizure | Uncertain significance | Submitter | Female |