esv2830359
- 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:121,140
- 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: 435 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830359 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 28,568,285 | 28,689,424 |
| esv2830359 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 28,791,152 | 28,912,290 |
| esv2830359 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 28,644,656 | 28,765,794 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099927 | duplication | NL10 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter | essv7099964 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099927 | Remapped | Good | NC_000002.12:g.(?_ 28568285)_(2868942 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 28,568,285 | 28,689,424 |
| essv7099927 | Remapped | Perfect | NC_000002.11:g.(?_ 28791152)_(2891229 0_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 28,791,152 | 28,912,290 |
| essv7099927 | Submitted genomic | NC_000002.10:g.(?_ 28644656)_(2876579 4_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 28,644,656 | 28,765,794 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099927 | NL10 | NCBI36: NC_000002.10:g.(?_28644656)_(28765794_?)dup | duplication | Seizure | Uncertain significance | Submitter | Female | essv7099964 |