esv3986523
- 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:10,611
- 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: 272 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3986523 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 173,604,150 | 173,614,760 |
| esv3986523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 174,525,301 | 174,535,911 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25906205 | deletion | DGMQ-31005 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,544 |
| essv25902487 | deletion | DGMQ-32215 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,575 |
| essv25918306 | deletion | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,712 |
| essv25971368 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,534 |
| essv25974661 | deletion | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,664 |
| essv25955668 | deletion | DGMQ-31609 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,567 |
| essv25967664 | deletion | DGMQ-31556 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,506 |
| essv25974477 | deletion | DGMQ-31416 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,428 |
| essv25992216 | deletion | DGMQ-31449 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,630 |
| essv25940205 | deletion | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,468 |
| essv25967555 | deletion | DGMQ-31129 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,496 |
| essv26001392 | deletion | DGMQ-32250 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,486 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25906205 | Remapped | Perfect | NC_000004.12:g.(17 3604150_?)_(?_1736 14499)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,604,150 | 173,614,499 |
| essv25902487 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14499)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,499 |
| essv25918306 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14499)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,499 |
| essv25971368 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14499)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,499 |
| essv25974661 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14499)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,499 |
| essv25955668 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,760 |
| essv25967664 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,760 |
| essv25974477 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,760 |
| essv25992216 | Remapped | Perfect | NC_000004.12:g.(17 3611800_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,800 | 173,614,760 |
| essv25940205 | Remapped | Perfect | NC_000004.12:g.(17 3611908_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,908 | 173,614,760 |
| essv25967555 | Remapped | Perfect | NC_000004.12:g.(17 3611908_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,908 | 173,614,760 |
| essv26001392 | Remapped | Perfect | NC_000004.12:g.(17 3611908_?)_(?_1736 14760)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 173,611,908 | 173,614,760 |
| essv25906205 | Submitted genomic | NC_000004.11:g.(17 4525301_?)_(?_1745 35650)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,525,301 | 174,535,650 | ||
| essv25902487 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35650)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,650 | ||
| essv25918306 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35650)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,650 | ||
| essv25971368 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35650)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,650 | ||
| essv25974661 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35650)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,650 | ||
| essv25955668 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,911 | ||
| essv25967664 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,911 | ||
| essv25974477 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,911 | ||
| essv25992216 | Submitted genomic | NC_000004.11:g.(17 4532951_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,532,951 | 174,535,911 | ||
| essv25940205 | Submitted genomic | NC_000004.11:g.(17 4533059_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,533,059 | 174,535,911 | ||
| essv25967555 | Submitted genomic | NC_000004.11:g.(17 4533059_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,533,059 | 174,535,911 | ||
| essv26001392 | Submitted genomic | NC_000004.11:g.(17 4533059_?)_(?_1745 35911)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,533,059 | 174,535,911 |