esv3693337
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:116,664
- Publication(s):Palta et al. 2015
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: 484 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693337 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 141,290,190 | 141,406,853 |
| esv3693337 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 142,047,759 | 142,164,422 |
| esv3693337 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 141,764,229 | 141,880,892 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508416 | copy number loss | C010113 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508415, essv16508417 |
| essv16508421 | copy number loss | C010115 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508420 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508416 | Remapped | Perfect | NC_000002.12:g.(?_ 141290190)_(141406 853_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 141,290,190 | 141,406,853 |
| essv16508421 | Remapped | Perfect | NC_000002.12:g.(?_ 141290190)_(141406 853_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 141,290,190 | 141,406,853 |
| essv16508416 | Remapped | Perfect | NC_000002.11:g.(?_ 142047759)_(142164 422_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 142,047,759 | 142,164,422 |
| essv16508421 | Remapped | Perfect | NC_000002.11:g.(?_ 142047759)_(142164 422_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 142,047,759 | 142,164,422 |
| essv16508416 | Submitted genomic | NC_000002.10:g.(?_ 141764229)_(141880 892_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 141,764,229 | 141,880,892 | ||
| essv16508421 | Submitted genomic | NC_000002.10:g.(?_ 141764229)_(141880 892_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 141,764,229 | 141,880,892 |