esv2830404
- 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:103,886
- 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: 562 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 562 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830404 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 116,050,964 | 116,154,849 |
| esv2830404 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 115,386,661 | 115,490,546 |
| esv2830404 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 115,414,560 | 115,518,445 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099974 | deletion | NL49 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099974 | Remapped | Perfect | NC_000005.10:g.(?_ 116050964)_(116154 849_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,050,964 | 116,154,849 |
| essv7099974 | Remapped | Perfect | NC_000005.9:g.(?_1 15386661)_(1154905 46_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,386,661 | 115,490,546 |
| essv7099974 | Submitted genomic | NC_000005.8:g.(?_1 15414560)_(1155184 45_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,414,560 | 115,518,445 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099974 | NL49 | NCBI36: NC_000005.8:g.(?_115414560)_(115518445_?)del | deletion | maternal | Seizure | Uncertain significance | Submitter | Female |