esv3978843
- 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:108,551
- 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: 647 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 647 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
esv3978843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 70,949,298 | 71,057,848 |
esv3978843 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,983,201 | 71,091,751 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25951140 | duplication | DGMQ-32056 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,667 |
essv25979036 | duplication | DGMQ-31872 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,597 |
essv25908289 | duplication | DGMQ-31611 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,480 |
essv26010671 | duplication | DGMQ-31601 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,666 |
essv26008854 | duplication | DGMQ-31552 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,615 |
essv25909970 | duplication | DGMQ-32368 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,513 |
essv25941881 | duplication | DGMQ-32325 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,499 |
essv25961690 | duplication | DGMQ-31497 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,530 |
essv25963448 | duplication | DGMQ-32977 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,525 |
essv25993201 | duplication | DGMQ-31537 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
essv26026170 | duplication | DGMQ-31582 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,592 |
essv26043671 | duplication | DGMQ-31226 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,486 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv25951140 | Remapped | Perfect | NC_000016.10:g.(70 949298_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,298 | 71,057,798 |
essv25979036 | Remapped | Perfect | NC_000016.10:g.(70 949298_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,298 | 71,057,798 |
essv25908289 | Remapped | Perfect | NC_000016.10:g.(70 949398_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,398 | 71,057,798 |
essv26010671 | Remapped | Perfect | NC_000016.10:g.(70 949398_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,398 | 71,057,798 |
essv26008854 | Remapped | Perfect | NC_000016.10:g.(70 949398_?)_(?_71057 848)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,398 | 71,057,848 |
essv25909970 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,798 |
essv25941881 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,798 |
essv25961690 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,798 |
essv25963448 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,798 |
essv25993201 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 798)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,798 |
essv26026170 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 848)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,848 |
essv26043671 | Remapped | Perfect | NC_000016.10:g.(70 949448_?)_(?_71057 848)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,949,448 | 71,057,848 |
essv25951140 | Submitted genomic | NC_000016.9:g.(709 83201_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,201 | 71,091,701 | ||
essv25979036 | Submitted genomic | NC_000016.9:g.(709 83201_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,201 | 71,091,701 | ||
essv25908289 | Submitted genomic | NC_000016.9:g.(709 83301_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,301 | 71,091,701 | ||
essv26010671 | Submitted genomic | NC_000016.9:g.(709 83301_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,301 | 71,091,701 | ||
essv26008854 | Submitted genomic | NC_000016.9:g.(709 83301_?)_(?_710917 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,301 | 71,091,751 | ||
essv25909970 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,701 | ||
essv25941881 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,701 | ||
essv25961690 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,701 | ||
essv25963448 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,701 | ||
essv25993201 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,701 | ||
essv26026170 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,751 | ||
essv26043671 | Submitted genomic | NC_000016.9:g.(709 83351_?)_(?_710917 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,983,351 | 71,091,751 |