esv3983270
- 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:264,150
- 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: 3692 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3696 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3983270 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,910,151 | 12,174,300 |
| esv3983270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,910,151 | 12,174,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25935756 | deletion | DGMQ-31489 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,736 |
| essv25923134 | deletion | DGMQ-31244 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,657 |
| essv25948256 | deletion | DGMQ-32309 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,760 |
| essv25895390 | deletion | DGMQ-31058 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,740 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25935756 | Remapped | Perfect | NC_000009.12:g.(11 910151_?)_(?_12174 300)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,910,151 | 12,174,300 |
| essv25923134 | Remapped | Perfect | NC_000009.12:g.(11 910601_?)_(?_12174 300)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,910,601 | 12,174,300 |
| essv25948256 | Remapped | Perfect | NC_000009.12:g.(11 945251_?)_(?_12099 150)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,945,251 | 12,099,150 |
| essv25895390 | 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 |
| essv25935756 | Submitted genomic | NC_000009.11:g.(11 910151_?)_(?_12174 300)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,910,151 | 12,174,300 | ||
| essv25923134 | Submitted genomic | NC_000009.11:g.(11 910601_?)_(?_12174 300)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,910,601 | 12,174,300 | ||
| essv25948256 | Submitted genomic | NC_000009.11:g.(11 945251_?)_(?_12099 150)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,945,251 | 12,099,150 | ||
| essv25895390 | Submitted genomic | NC_000009.11:g.(11 992501_?)_(?_12130 650)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,992,501 | 12,130,650 |