esv2830399
- 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:162,479
- 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: 716 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 262 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830399 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 171,925,320 | 172,087,798 |
| esv2830399 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 172,781,830 | 172,952,526 |
| esv2830399 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 172,490,076 | 172,660,772 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099970 | duplication | NL45 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099989 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099970 | Remapped | Good | NC_000002.12:g.(?_ 171925320)_(172087 798_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 171,925,320 | 172,087,798 |
| essv7099970 | Remapped | Perfect | NC_000002.11:g.(?_ 172781830)_(172952 526_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 172,781,830 | 172,952,526 |
| essv7099970 | Submitted genomic | NC_000002.10:g.(?_ 172490076)_(172660 772_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 172,490,076 | 172,660,772 |
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 | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| essv7099970 | NL45 | NCBI36: NC_000002.10:g.(?_172490076)_(172660772_?)dup | duplication | Seizure | Uncertain significance | Submitter | Male | essv7099989 |