esv2830415
- 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:194,116
- 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: 797 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 797 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 9,432,204 | 9,626,319 |
| esv2830415 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 9,335,521 | 9,529,636 |
| esv2830415 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 9,276,246 | 9,470,361 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099985 | deletion | NL42 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099966 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099985 | Remapped | Perfect | NC_000017.11:g.(?_ 9432204)_(9626319_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 9,432,204 | 9,626,319 |
| essv7099985 | Remapped | Perfect | NC_000017.10:g.(?_ 9335521)_(9529636_ ?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 9,335,521 | 9,529,636 |
| essv7099985 | Submitted genomic | NC_000017.9:g.(?_9 276246)_(9470361_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 9,276,246 | 9,470,361 |
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 | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|---|
| essv7099985 | NL42 | NCBI36: NC_000017.9:g.(?_9276246)_(9470361_?)del | deletion | maternal | Seizure | Uncertain significance | Submitter | Female | essv7099966 |