esv3984329
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,000
- 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: 289 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3984329 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 90,076,483 | 90,094,482 |
| esv3984329 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 89,809,651 | 89,827,650 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25939488 | deletion | DGMQ-32293 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,587 |
| essv25969564 | deletion | DGMQ-31123 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,704 |
| essv25985520 | deletion | DGMQ-31508 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,545 |
| essv25971449 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
| essv25971450 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25939488 | Remapped | Perfect | NC_000011.10:g.(90 076483_?)_(?_90094 482)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,076,483 | 90,094,482 |
| essv25969564 | Remapped | Perfect | NC_000011.10:g.(90 076483_?)_(?_90094 482)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,076,483 | 90,094,482 |
| essv25985520 | Remapped | Perfect | NC_000011.10:g.(90 081433_?)_(?_90093 132)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,081,433 | 90,093,132 |
| essv25971449 | Remapped | Perfect | NC_000011.10:g.(90 082333_?)_(?_90085 932)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,082,333 | 90,085,932 |
| essv25971450 | Remapped | Perfect | NC_000011.10:g.(90 090433_?)_(?_90094 482)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,090,433 | 90,094,482 |
| essv25939488 | Submitted genomic | NC_000011.9:g.(898 09651_?)_(?_898276 50)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,809,651 | 89,827,650 | ||
| essv25969564 | Submitted genomic | NC_000011.9:g.(898 09651_?)_(?_898276 50)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,809,651 | 89,827,650 | ||
| essv25985520 | Submitted genomic | NC_000011.9:g.(898 14601_?)_(?_898263 00)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,814,601 | 89,826,300 | ||
| essv25971449 | Submitted genomic | NC_000011.9:g.(898 15501_?)_(?_898191 00)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,815,501 | 89,819,100 | ||
| essv25971450 | Submitted genomic | NC_000011.9:g.(898 23601_?)_(?_898276 50)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,823,601 | 89,827,650 |