esv3975269
- 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:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:502,629
- 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: 4066 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 4103 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3975269 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 63,026,593 |
| esv3975269 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,984,343 | 62,486,971 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25930828 | duplication | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,712 |
| essv25953554 | duplication | DGMQ-31639 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,641 |
| essv25947993 | duplication | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,468 |
| essv25998754 | duplication | DGMQ-31568 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,594 |
| essv26000507 | duplication | DGMQ-31125 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,569 |
| essv26003859 | duplication | DGMQ-31444 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,542 |
| essv25966115 | duplication | DGMQ-31617 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,636 |
| essv25987060 | duplication | DGMQ-31508 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,545 |
| essv26035341 | duplication | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,677 |
| essv26016354 | duplication | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,679 |
| essv25969423 | duplication | DGMQ-31705 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 4 | 1,442 |
| essv25969190 | duplication | DGMQ-31705 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 4 | 1,442 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25930828 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62536 118)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,536,118 |
| essv25953554 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62536 118)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,536,118 |
| essv25947993 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62565 594)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,565,594 |
| essv25998754 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62568 530)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,568,530 |
| essv26000507 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62568 530)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,568,530 |
| essv26003859 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_62569 061)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 62,569,061 |
| essv25966115 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_63001 597)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 63,001,597 |
| essv25987060 | Remapped | Perfect | NC_000007.14:g.(62 523965_?)_(?_63026 593)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,523,965 | 63,026,593 |
| essv26035341 | Remapped | Perfect | NC_000007.14:g.(62 524714_?)_(?_62568 530)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,524,714 | 62,568,530 |
| essv26016354 | Remapped | Perfect | NC_000007.14:g.(62 525205_?)_(?_62564 310)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,525,205 | 62,564,310 |
| essv25969423 | Remapped | Perfect | NC_000007.14:g.(62 541973_?)_(?_62544 672)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,541,973 | 62,544,672 |
| essv25969190 | Remapped | Perfect | NC_000007.14:g.(62 751014_?)_(?_62770 098)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,751,014 | 62,770,098 |
| essv25930828 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_61996 496)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 61,996,496 | ||
| essv25953554 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_61996 496)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 61,996,496 | ||
| essv25947993 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62025 972)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,025,972 | ||
| essv25998754 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62028 908)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,028,908 | ||
| essv26000507 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62028 908)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,028,908 | ||
| essv26003859 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62029 439)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,029,439 | ||
| essv25966115 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62461 975)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,461,975 | ||
| essv25987060 | Submitted genomic | NC_000007.13:g.(61 984343_?)_(?_62486 971)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,984,343 | 62,486,971 | ||
| essv26035341 | Submitted genomic | NC_000007.13:g.(61 985092_?)_(?_62028 908)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,985,092 | 62,028,908 | ||
| essv26016354 | Submitted genomic | NC_000007.13:g.(61 985583_?)_(?_62024 688)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,985,583 | 62,024,688 | ||
| essv25969423 | Submitted genomic | NC_000007.13:g.(62 002351_?)_(?_62005 050)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,002,351 | 62,005,050 | ||
| essv25969190 | Submitted genomic | NC_000007.13:g.(62 211392_?)_(?_62230 476)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,211,392 | 62,230,476 |