esv3693371
- 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:81,445
- 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: 1333 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1333 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,438,856 | 111,520,300 |
| esv3693371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,078,912 | 111,160,356 |
| esv3693371 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,866,148 | 110,947,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508273 | copy number loss | C010024 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508276, essv16508274, essv16508277 |
| essv16508283 | copy number loss | C010026 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508282, essv16508284, essv16508281 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508273 | Remapped | Perfect | NC_000007.14:g.(?_ 111438856)_(111520 300_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,438,856 | 111,520,300 |
| essv16508283 | Remapped | Perfect | NC_000007.14:g.(?_ 111440185)_(111520 300_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,440,185 | 111,520,300 |
| essv16508273 | Remapped | Perfect | NC_000007.13:g.(?_ 111078912)_(111160 356_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,078,912 | 111,160,356 |
| essv16508283 | Remapped | Perfect | NC_000007.13:g.(?_ 111080241)_(111160 356_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,080,241 | 111,160,356 |
| essv16508273 | Submitted genomic | NC_000007.12:g.(?_ 110866148)_(110947 592_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,866,148 | 110,947,592 | ||
| essv16508283 | Submitted genomic | NC_000007.12:g.(?_ 110867477)_(110947 592_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,867,477 | 110,947,592 |