esv2830412
- 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:239,830
- 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: 1736 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1736 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 515 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,732,788 | 158,972,617 |
| esv2830412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,525,479 | 158,765,308 |
| esv2830412 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 158,218,240 | 158,458,069 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099983 | duplication | NL54 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099983 | Remapped | Perfect | NC_000007.14:g.(?_ 158732788)_(158972 617_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,732,788 | 158,972,617 |
| essv7099983 | Remapped | Perfect | NC_000007.13:g.(?_ 158525479)_(158765 308_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,525,479 | 158,765,308 |
| essv7099983 | Submitted genomic | NC_000007.12:g.(?_ 158218240)_(158458 069_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 158,218,240 | 158,458,069 |
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 |
|---|---|---|---|---|---|---|---|
| essv7099983 | NL54 | NCBI36: NC_000007.12:g.(?_158218240)_(158458069_?)dup | duplication | Seizure | Uncertain significance | Submitter | Male |