esv3982835
- 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:20,250
- 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: 429 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3982835 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,350,101 | 89,370,350 |
| esv3982835 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,399,251 | 89,419,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25985111 | deletion | DGMQ-31513 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,620 |
| essv26002630 | deletion | DGMQ-32250 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,486 |
| essv25972957 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
| essv25944478 | deletion | DGMQ-32273 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25985111 | Remapped | Perfect | NC_000003.12:g.(89 350101_?)_(?_89369 900)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,350,101 | 89,369,900 |
| essv26002630 | Remapped | Perfect | NC_000003.12:g.(89 350101_?)_(?_89369 900)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,350,101 | 89,369,900 |
| essv25972957 | Remapped | Perfect | NC_000003.12:g.(89 350101_?)_(?_89370 350)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,350,101 | 89,370,350 |
| essv25944478 | Remapped | Perfect | NC_000003.12:g.(89 350551_?)_(?_89370 350)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,350,551 | 89,370,350 |
| essv25985111 | Submitted genomic | NC_000003.11:g.(89 399251_?)_(?_89419 050)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,399,251 | 89,419,050 | ||
| essv26002630 | Submitted genomic | NC_000003.11:g.(89 399251_?)_(?_89419 050)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,399,251 | 89,419,050 | ||
| essv25972957 | Submitted genomic | NC_000003.11:g.(89 399251_?)_(?_89419 500)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,399,251 | 89,419,500 | ||
| essv25944478 | Submitted genomic | NC_000003.11:g.(89 399701_?)_(?_89419 500)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,399,701 | 89,419,500 |