esv2830375
- 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:458,165
- 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: 1124 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1124 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830375 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 142,612,227 | 143,070,391 |
| esv2830375 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 141,991,792 | 142,449,956 |
| esv2830375 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 141,971,976 | 142,430,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099945 | duplication | NL37 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099946, essv7099957 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099945 | Remapped | Good | NC_000005.10:g.(?_ 142612227)_(143070 391_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 142,612,227 | 143,070,391 |
| essv7099945 | Remapped | Good | NC_000005.9:g.(?_1 41991792)_(1424499 56_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 141,991,792 | 142,449,956 |
| essv7099945 | Submitted genomic | NC_000005.8:g.(?_1 41971976)_(1424301 49_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 141,971,976 | 142,430,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099945 | NL37 | NCBI36: NC_000005.8:g.(?_141971976)_(142430149_?)dup | duplication | Seizure | Uncertain significance | Submitter | Male | essv7099946, essv7099957 |