esv2830410
- 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:122,744
- 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: 467 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 467 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830410 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,777,954 | 9,900,697 |
| esv2830410 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 9,758,602 | 9,881,345 |
| esv2830410 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 9,706,602 | 9,829,345 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099981 | duplication | NL35 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099955 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099981 | Remapped | Perfect | NC_000020.11:g.(?_ 9777954)_(9900697_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,777,954 | 9,900,697 |
| essv7099981 | Remapped | Perfect | NC_000020.10:g.(?_ 9758602)_(9881345_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 9,758,602 | 9,881,345 |
| essv7099981 | Submitted genomic | NC_000020.9:g.(?_9 706602)_(9829345_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 9,706,602 | 9,829,345 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099981 | NL35 | NCBI36: NC_000020.9:g.(?_9706602)_(9829345_?)dup | duplication | paternal | Seizure | Uncertain significance | Submitter | Male | essv7099955 |