esv3982364
- 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:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:278,569
- 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: 1212 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2454 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2906 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3982364 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | - | 62,180,400 | 62,294,432 | - |
| esv3982364 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,314,704 | - | - | 62,524,714 |
| esv3982364 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 332,222 | 610,790 | - |
| esv3982364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,758,955 | - | - | 61,985,092 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26016861 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,679 |
| essv26006623 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26006621 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26006620 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26006619 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv25997981 | deletion | DGMQ-31568 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,594 |
| essv26004901 | deletion | DGMQ-32167 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,562 |
| essv26006618 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26034533 | deletion | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,677 |
| essv26034534 | deletion | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,677 |
| essv25997591 | deletion | DGMQ-31568 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,594 |
| essv26004902 | deletion | DGMQ-32167 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,562 |
| essv26034535 | deletion | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,677 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv26016861 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( 62316451_?)_(?_625 24714)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | - | 62,180,400 | 62,294,432 | - |
| essv26006623 | Remapped | Good | NC_000007.14:g.(62 200991_?)_(?_62203 869)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,200,991 | - | - | 62,203,869 |
| essv26006621 | Remapped | Perfect | NC_000007.14:g.(62 206038_?)_(?_62208 516)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,206,038 | - | - | 62,208,516 |
| essv26006620 | Remapped | Good | NC_000007.14:g.(62 239894_?)_(?_62248 572)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,239,894 | - | - | 62,248,572 |
| essv26006619 | Remapped | Pass | NC_000007.14:g.(62 262843_?)_(6229443 2_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,262,843 | - | 62,294,432 | - |
| essv25997981 | Remapped | Perfect | NC_000007.14:g.(62 314704_?)_(?_62331 999)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,314,704 | - | - | 62,331,999 |
| essv26004901 | Remapped | Perfect | NC_000007.14:g.(62 314704_?)_(?_62331 999)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,314,704 | - | - | 62,331,999 |
| essv26006618 | Remapped | Perfect | NC_000007.14:g.(62 314704_?)_(?_62331 999)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,314,704 | - | - | 62,331,999 |
| essv26016861 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( 62316451_?)_(?_625 24714)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,316,451 | - | - | 62,524,714 |
| essv26034533 | Remapped | Perfect | NC_000007.14:g.(62 317402_?)_(?_62333 990)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,317,402 | - | - | 62,333,990 |
| essv26034534 | Remapped | Perfect | NC_000007.14:g.(62 345709_?)_(?_62348 504)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,345,709 | - | - | 62,348,504 |
| essv25997591 | Remapped | Perfect | NC_000007.14:g.(62 506873_?)_(?_62511 372)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,506,873 | - | - | 62,511,372 |
| essv26004902 | Remapped | Perfect | NC_000007.14:g.(62 514308_?)_(?_62517 868)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,514,308 | - | - | 62,517,868 |
| essv26034535 | Remapped | Perfect | NC_000007.14:g.(62 518267_?)_(?_62520 647)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,518,267 | - | - | 62,520,647 |
| essv26016861 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( 62316451_?)_(?_625 24714)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 331,112 | 610,898 | - |
| essv25997981 | Submitted genomic | NC_000007.13:g.(61 758955_?)_(?_61776 250)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,758,955 | - | - | 61,776,250 | ||
| essv26004901 | Submitted genomic | NC_000007.13:g.(61 758955_?)_(?_61776 250)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,758,955 | - | - | 61,776,250 | ||
| essv26006618 | Submitted genomic | NC_000007.13:g.(61 758955_?)_(?_61776 250)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,758,955 | - | - | 61,776,250 | ||
| essv26016861 | Submitted genomic | NC_000007.13:g.(61 760702_?)_(?_61985 092)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,760,702 | - | - | 61,985,092 | ||
| essv26034533 | Submitted genomic | NC_000007.13:g.(61 761653_?)_(?_61778 241)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,761,653 | - | - | 61,778,241 | ||
| essv26034534 | Submitted genomic | NC_000007.13:g.(61 789960_?)_(?_61792 755)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,789,960 | - | - | 61,792,755 | ||
| essv26006619 | Submitted genomic | NC_000007.13:g.(61 796377_?)_(?_61834 711)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,796,377 | - | - | 61,834,711 | ||
| essv26006620 | Submitted genomic | NC_000007.13:g.(61 848991_?)_(?_61857 668)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,848,991 | - | - | 61,857,668 | ||
| essv26006621 | Submitted genomic | NC_000007.13:g.(61 889044_?)_(?_61891 522)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,889,044 | - | - | 61,891,522 | ||
| essv26006623 | Submitted genomic | NC_000007.13:g.(61 893691_?)_(?_61896 568)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,893,691 | - | - | 61,896,568 | ||
| essv25997591 | Submitted genomic | NC_000007.13:g.(61 967251_?)_(?_61971 750)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,967,251 | - | - | 61,971,750 | ||
| essv26004902 | Submitted genomic | NC_000007.13:g.(61 974686_?)_(?_61978 246)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,974,686 | - | - | 61,978,246 | ||
| essv26034535 | Submitted genomic | NC_000007.13:g.(61 978645_?)_(?_61981 025)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,978,645 | - | - | 61,981,025 |