esv3978850
- 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:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,001
- 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: 581 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 581 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
esv3978850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,598 |
esv3978850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 71,092,501 | 71,202,501 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv26026171 | duplication | DGMQ-31582 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,592 |
essv25951141 | duplication | DGMQ-32056 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,667 |
essv25961691 | duplication | DGMQ-31497 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,530 |
essv25993202 | duplication | DGMQ-31537 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
essv25979037 | duplication | DGMQ-31872 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,597 |
essv25909971 | duplication | DGMQ-32368 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,513 |
essv26008856 | duplication | DGMQ-31552 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,615 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv26026171 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 048)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,048 |
essv25951141 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 398)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,398 |
essv25961691 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 398)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,398 |
essv25993202 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 398)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,398 |
essv25979037 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
essv25909971 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,548 |
essv26008856 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 598)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,598 |
essv26026171 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712019 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,201,951 | ||
essv25951141 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,301 | ||
essv25961691 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,301 | ||
essv25993202 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,301 | ||
essv25979037 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
essv25909971 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,451 | ||
essv26008856 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712025 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,501 |