esv3974427
- 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:19,231
- 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: 177 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3974427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 102,795,730 | 102,814,960 |
| esv3974427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 102,131,434 | 102,150,664 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25904550 | deletion | DGMQ-31237 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,475 |
| essv25940472 | deletion | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,468 |
| essv26015487 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,679 |
| essv25971693 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25904550 | Remapped | Perfect | NC_000005.10:g.(10 2795730_?)_(?_1028 05872)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 102,795,730 | 102,805,872 |
| essv25940472 | Remapped | Perfect | NC_000005.10:g.(10 2795730_?)_(?_1028 06061)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 102,795,730 | 102,806,061 |
| essv26015487 | Remapped | Perfect | NC_000005.10:g.(10 2795730_?)_(?_1028 07607)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 102,795,730 | 102,807,607 |
| essv25971693 | Remapped | Perfect | NC_000005.10:g.(10 2795730_?)_(?_1028 14960)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 102,795,730 | 102,814,960 |
| essv25904550 | Submitted genomic | NC_000005.9:g.(102 131434_?)_(?_10214 1576)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,131,434 | 102,141,576 | ||
| essv25940472 | Submitted genomic | NC_000005.9:g.(102 131434_?)_(?_10214 1765)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,131,434 | 102,141,765 | ||
| essv26015487 | Submitted genomic | NC_000005.9:g.(102 131434_?)_(?_10214 3311)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,131,434 | 102,143,311 | ||
| essv25971693 | Submitted genomic | NC_000005.9:g.(102 131434_?)_(?_10215 0664)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,131,434 | 102,150,664 |