esv3976365
- 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:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:135,055
- 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: 860 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1384 SVs from 82 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3976365 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,863 |
| esv3976365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,701 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25993665 | duplication | DGMQ-31537 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
| essv26024920 | duplication | DGMQ-31452 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,384 |
| essv25912096 | duplication | DGMQ-31108 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,594 |
| essv26030988 | duplication | DGMQ-31269 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,508 |
| essv26027078 | duplication | DGMQ-31582 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,592 |
| essv25912097 | duplication | DGMQ-31108 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,594 |
| essv26024921 | duplication | DGMQ-31452 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,384 |
| essv26031000 | duplication | DGMQ-31269 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,508 |
| essv25993668 | duplication | DGMQ-31537 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
| essv26024923 | duplication | DGMQ-31452 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,384 |
| essv26031011 | duplication | DGMQ-31269 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,508 |
| essv25993669 | duplication | DGMQ-31537 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
| essv25912098 | duplication | DGMQ-31108 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,594 |
| essv25979495 | duplication | DGMQ-31872 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,597 |
| essv25912099 | duplication | DGMQ-31108 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,594 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv25993665 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61583 812)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,583,812 |
| essv26024920 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61583 812)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,583,812 |
| essv25912096 | Remapped | Perfect | NC_000009.12:g.(61 519013_?)_(?_61561 312)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,013 | - | 61,561,312 |
| essv26030988 | Remapped | Perfect | NC_000009.12:g.(61 519013_?)_(?_61585 162)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,013 | - | 61,585,162 |
| essv26027078 | Remapped | Perfect | NC_000009.12:g.(61 519013_?)_(?_61653 863)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,013 | - | 61,653,863 |
| essv25912097 | Remapped | Perfect | NC_000009.12:g.(61 563563_?)_(?_61585 162)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,563,563 | - | 61,585,162 |
| essv26024921 | Remapped | Perfect | NC_000009.12:g.(61 583563_?)_(?_61604 913)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,583,563 | - | 61,604,913 |
| essv26031000 | Remapped | Perfect | NC_000009.12:g.(61 584863_?)_(?_61603 063)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,584,863 | - | 61,603,063 |
| essv25993668 | Remapped | Perfect | NC_000009.12:g.(61 585013_?)_(?_61597 263)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,585,013 | - | 61,597,263 |
| essv26024923 | Remapped | Perfect | NC_000009.12:g.(61 597763_?)_(?_61650 862)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,597,763 | - | 61,650,862 |
| essv26031011 | Remapped | Perfect | NC_000009.12:g.(61 597763_?)_(?_61650 862)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,597,763 | - | 61,650,862 |
| essv25993669 | Remapped | Perfect | NC_000009.12:g.(61 600013_?)_(?_61637 362)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,600,013 | - | 61,637,362 |
| essv25912098 | Remapped | Perfect | NC_000009.12:g.(61 604963_?)_(?_61624 312)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,604,963 | - | 61,624,312 |
| essv25979495 | Remapped | Perfect | NC_000009.12:g.(61 604963_?)_(?_61643 662)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,604,963 | - | 61,643,662 |
| essv25912099 | Remapped | Perfect | NC_000009.12:g.(61 625663_?)_(?_61636 012)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,625,663 | - | 61,636,012 |
| essv25993665 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44791 650)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,791,650 | ||
| essv26024920 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44791 650)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,791,650 | ||
| essv25912096 | Submitted genomic | NC_000009.11:g.(44 726851_?)_(?_44769 150)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,851 | - | 44,769,150 | ||
| essv26030988 | Submitted genomic | NC_000009.11:g.(44 726851_?)_(?_44793 000)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,851 | - | 44,793,000 | ||
| essv26027078 | Submitted genomic | NC_000009.11:g.(44 726851_?)_(?_44861 701)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,851 | - | 44,861,701 | ||
| essv25912097 | Submitted genomic | NC_000009.11:g.(44 771401_?)_(?_44793 000)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,771,401 | - | 44,793,000 | ||
| essv26024921 | Submitted genomic | NC_000009.11:g.(44 791401_?)_(?_44812 751)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,791,401 | - | 44,812,751 | ||
| essv26031000 | Submitted genomic | NC_000009.11:g.(44 792701_?)_(?_44810 901)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,792,701 | - | 44,810,901 | ||
| essv25993668 | Submitted genomic | NC_000009.11:g.(44 792851_?)_(?_44805 101)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,792,851 | - | 44,805,101 | ||
| essv26024923 | Submitted genomic | NC_000009.11:g.(44 805601_?)_(?_44858 700)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,805,601 | - | 44,858,700 | ||
| essv26031011 | Submitted genomic | NC_000009.11:g.(44 805601_?)_(?_44858 700)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,805,601 | - | 44,858,700 | ||
| essv25993669 | Submitted genomic | NC_000009.11:g.(44 807851_?)_(?_44845 200)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,807,851 | - | 44,845,200 | ||
| essv25912098 | Submitted genomic | NC_000009.11:g.(44 812801_?)_(?_44832 150)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,812,801 | - | 44,832,150 | ||
| essv25979495 | Submitted genomic | NC_000009.11:g.(44 812801_?)_(?_44851 500)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,812,801 | - | 44,851,500 | ||
| essv25912099 | Submitted genomic | NC_000009.11:g.(44 833501_?)_(?_44843 850)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,833,501 | - | 44,843,850 |