esv3983269
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:284,850
- 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: 3786 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3790 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3983269 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,879,101 | 12,163,950 |
| esv3983269 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,879,101 | 12,163,950 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26042829 | deletion | DGMQ-31574 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,528 |
| essv25978173 | deletion | DGMQ-31455 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,590 |
| essv26027039 | deletion | DGMQ-31582 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,592 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26042829 | Remapped | Perfect | NC_000009.12:g.(11 879101_?)_(?_12074 850)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,879,101 | 12,074,850 |
| essv25978173 | Remapped | Perfect | NC_000009.12:g.(11 992501_?)_(?_12130 650)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,992,501 | 12,130,650 |
| essv26027039 | Remapped | Perfect | NC_000009.12:g.(12 021301_?)_(?_12163 950)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,021,301 | 12,163,950 |
| essv26042829 | Submitted genomic | NC_000009.11:g.(11 879101_?)_(?_12074 850)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,879,101 | 12,074,850 | ||
| essv25978173 | Submitted genomic | NC_000009.11:g.(11 992501_?)_(?_12130 650)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,992,501 | 12,130,650 | ||
| essv26027039 | Submitted genomic | NC_000009.11:g.(12 021301_?)_(?_12163 950)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,021,301 | 12,163,950 |