esv3584698
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:51,171
- 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: 1001 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 807 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1001 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 515 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584698 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| esv3584698 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| esv3584698 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| esv3584698 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838628 | copy number gain | OA074 | SNP array | Probe signal intensity | 24 |
| essv9838629 | copy number gain | OA062 | SNP array | Probe signal intensity | 28 |
| essv9838630 | copy number gain | OA018 | SNP array | Probe signal intensity | 25 |
| essv9838631 | copy number gain | OA007 | SNP array | Probe signal intensity | 24 |
| essv9838632 | copy number gain | OA005 | SNP array | Probe signal intensity | 19 |
| essv9838633 | copy number gain | OA0039 | SNP array | Probe signal intensity | 24 |
| essv9838635 | copy number gain | OA003 | SNP array | Probe signal intensity | 19 |
| essv9838636 | copy number gain | KSM003 | SNP array | Probe signal intensity | 52 |
| essv9838637 | copy number gain | KSF008 | SNP array | Probe signal intensity | 54 |
| essv9838638 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9838628 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838629 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838630 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838631 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838632 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838633 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838635 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838636 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838637 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838638 | Remapped | Pass | NW_018654707.1:g.( ?_15520)_(66690_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,520 | 66,690 |
| essv9838628 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838629 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838630 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838631 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838632 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838633 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838635 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838636 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838637 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838638 | Remapped | Perfect | NC_000001.11:g.(?_ 72303253)_(7234546 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,253 | 72,345,465 |
| essv9838628 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838629 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838630 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838631 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838632 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838633 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838635 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838636 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838637 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838638 | Remapped | Perfect | NC_000001.10:g.(?_ 72768936)_(7281114 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,768,936 | 72,811,148 |
| essv9838628 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838629 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838630 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838631 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838632 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838633 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838635 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838636 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838637 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 | ||
| essv9838638 | Submitted genomic | NC_000001.9:g.(?_7 2541524)_(72583736 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 72,541,524 | 72,583,736 |