esv2830401
- 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:308,452
- 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: 885 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 886 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 216 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 93,220,504 | 93,528,955 |
| esv2830401 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 94,141,655 | 94,450,106 |
| esv2830401 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 94,360,678 | 94,669,129 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099972 | duplication | NL25 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099943 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099972 | Remapped | Perfect | NC_000004.12:g.(?_ 93220504)_(9352895 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 93,220,504 | 93,528,955 |
| essv7099972 | Remapped | Perfect | NC_000004.11:g.(?_ 94141655)_(9445010 6_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 94,141,655 | 94,450,106 |
| essv7099972 | Submitted genomic | NC_000004.10:g.(?_ 94360678)_(9466912 9_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 94,360,678 | 94,669,129 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099972 | NL25 | NCBI36: NC_000004.10:g.(?_94360678)_(94669129_?)dup | duplication | maternal | Seizure | Uncertain significance | Submitter | Male | essv7099943 |