esv3986031
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,650
- Publication(s):Fakhro 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: 432 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 438 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3986031 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 19,855,291 | 19,939,940 |
| esv3986031 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,060,544 | 20,145,193 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25941269 | deletion | DGMQ-32325 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,499 |
| essv26041362 | deletion | DGMQ-31574 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,528 |
| essv25909369 | deletion | DGMQ-32368 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,513 |
| essv26037733 | deletion | DGMQ-32145 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,532 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25941269 | Remapped | Perfect | NC_000015.10:g.(19 855291_?)_(?_19928 130)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,855,291 | 19,928,130 |
| essv26041362 | Remapped | Perfect | NC_000015.10:g.(19 899617_?)_(?_19936 267)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,899,617 | 19,936,267 |
| essv25909369 | Remapped | Perfect | NC_000015.10:g.(19 899617_?)_(?_19939 269)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,899,617 | 19,939,269 |
| essv26037733 | Remapped | Perfect | NC_000015.10:g.(19 919900_?)_(?_19939 940)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,919,900 | 19,939,940 |
| essv25941269 | Submitted genomic | NC_000015.9:g.(200 60544_?)_(?_201333 83)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,060,544 | 20,133,383 | ||
| essv26041362 | Submitted genomic | NC_000015.9:g.(201 04870_?)_(?_201415 20)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,104,870 | 20,141,520 | ||
| essv25909369 | Submitted genomic | NC_000015.9:g.(201 04870_?)_(?_201445 22)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,104,870 | 20,144,522 | ||
| essv26037733 | Submitted genomic | NC_000015.9:g.(201 25153_?)_(?_201451 93)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,125,153 | 20,145,193 |