esv3584964
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:32,314
- Publication(s):Mokhtar et al. 2014
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: 965 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 965 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584964 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| esv3584964 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| esv3584964 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838555 | copy number gain | OA2A | SNP array | Probe signal intensity | 24 |
| essv9838557 | copy number gain | OA091 | SNP array | Probe signal intensity | 24 |
| essv9838558 | copy number gain | OA064 | SNP array | Probe signal intensity | 28 |
| essv9838559 | copy number gain | OA059 | SNP array | Probe signal intensity | 20 |
| essv9838560 | copy number gain | OA018 | SNP array | Probe signal intensity | 25 |
| essv9838561 | copy number gain | OA016 | SNP array | Probe signal intensity | 31 |
| essv9838562 | copy number gain | OA013 | SNP array | Probe signal intensity | 31 |
| essv9838563 | copy number gain | KSM003 | SNP array | Probe signal intensity | 52 |
| essv9838564 | copy number gain | KSF024 | SNP array | Probe signal intensity | 42 |
| essv9838565 | copy number gain | 8S | SNP array | Probe signal intensity | 39 |
| essv9838566 | copy number gain | 2RB | SNP array | Probe signal intensity | 55 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838555 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838557 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838558 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838559 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838560 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838561 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838562 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838563 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838564 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838565 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838566 | Remapped | Perfect | NC_000020.11:g.(?_ 1580934)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,934 | 1,613,247 |
| essv9838555 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838557 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838558 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838559 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838560 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838561 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838562 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838563 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838564 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838565 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838566 | Remapped | Perfect | NC_000020.10:g.(?_ 1561580)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,561,580 | 1,593,893 |
| essv9838555 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838557 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838558 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838559 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838560 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838561 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838562 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838563 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838564 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838565 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 | ||
| essv9838566 | Submitted genomic | NC_000020.9:g.(?_1 509580)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,509,580 | 1,541,893 |