esv2830382
- 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:3,698,030
- 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: 7748 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 7748 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2124 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 154,790,212 | 158,488,241 |
| esv2830382 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 155,646,724 | 159,344,753 |
| esv2830382 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 155,354,970 | 159,052,999 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099952 | deletion | NL32 | Oligo aCGH | Probe signal intensity | Seizure | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099952 | Remapped | Perfect | NC_000002.12:g.(?_ 154790212)_(158488 241_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 154,790,212 | 158,488,241 |
| essv7099952 | Remapped | Perfect | NC_000002.11:g.(?_ 155646724)_(159344 753_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 155,646,724 | 159,344,753 |
| essv7099952 | Submitted genomic | NC_000002.10:g.(?_ 155354970)_(159052 999_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 155,354,970 | 159,052,999 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099952 | NL32 | NCBI36: NC_000002.10:g.(?_155354970)_(159052999_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Male |