esv3983583
- 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:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,754
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3983583 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| esv3983583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25897214 | deletion | DGMQ-31230 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,666 |
| essv25946276 | deletion | DGMQ-31030 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,644 |
| essv25956511 | deletion | DGMQ-31177 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,445 |
| essv26034585 | deletion | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,677 |
| essv25975098 | deletion | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,664 |
| essv25959233 | deletion | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,606 |
| essv26006833 | deletion | DGMQ-32064 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,555 |
| essv25906342 | deletion | DGMQ-31005 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,544 |
| essv25976385 | deletion | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,664 |
| essv26018299 | deletion | DGMQ-32064 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,555 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv25897214 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61648 612)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,648,612 |
| essv25946276 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| essv25956511 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| essv26034585 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| essv25975098 | Remapped | Perfect | NC_000009.12:g.(61 519013_?)_(?_61590 112)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,013 | - | 61,590,112 |
| essv25959233 | Remapped | Perfect | NC_000009.12:g.(61 519013_?)_(?_61597 762)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,013 | - | 61,597,762 |
| essv26006833 | Remapped | Perfect | NC_000009.12:g.(61 519463_?)_(?_61597 762)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,463 | - | 61,597,762 |
| essv25906342 | Remapped | Perfect | NC_000009.12:g.(61 519463_?)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,519,463 | - | 61,653,562 |
| essv25976385 | Remapped | Perfect | NC_000009.12:g.(61 592363_?)_(?_61604 962)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,592,363 | - | 61,604,962 |
| essv26018299 | Remapped | Perfect | NC_000009.12:g.(61 604963_?)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,604,963 | - | 61,653,562 |
| essv25897214 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44856 450)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,856,450 | ||
| essv25946276 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 | ||
| essv25956511 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 | ||
| essv26034585 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 | ||
| essv25975098 | Submitted genomic | NC_000009.11:g.(44 726851_?)_(?_44797 950)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,851 | - | 44,797,950 | ||
| essv25959233 | Submitted genomic | NC_000009.11:g.(44 726851_?)_(?_44805 600)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,851 | - | 44,805,600 | ||
| essv26006833 | Submitted genomic | NC_000009.11:g.(44 727301_?)_(?_44805 600)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,727,301 | - | 44,805,600 | ||
| essv25906342 | Submitted genomic | NC_000009.11:g.(44 727301_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,727,301 | - | 44,861,400 | ||
| essv25976385 | Submitted genomic | NC_000009.11:g.(44 800201_?)_(?_44812 800)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,800,201 | - | 44,812,800 | ||
| essv26018299 | Submitted genomic | NC_000009.11:g.(44 812801_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,812,801 | - | 44,861,400 |