esv3978847
- 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:109,951
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3978847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,498 |
| esv3978847 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 71,092,451 | 71,202,401 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25929316 | duplication | DGMQ-32371 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,493 |
| essv25916895 | duplication | DGMQ-31406 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,602 |
| essv25915167 | duplication | DGMQ-31643 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,512 |
| essv25927508 | duplication | DGMQ-32160 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,682 |
| essv25931011 | duplication | DGMQ-32220 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,685 |
| essv25908250 | duplication | DGMQ-31425 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,581 |
| essv25980775 | duplication | DGMQ-32060 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,610 |
| essv25920297 | duplication | DGMQ-31583 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,709 |
| essv25947240 | duplication | DGMQ-32309 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,760 |
| essv25916896 | duplication | DGMQ-31406 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,602 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25929316 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 248)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,248 |
| essv25916895 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71087 998)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,087,998 |
| essv25915167 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71167 948)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,167,948 |
| essv25927508 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71167 998)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,167,998 |
| essv25931011 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 298)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,298 |
| essv25908250 | 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 |
| essv25980775 | 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 |
| essv25920297 | 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 |
| essv25947240 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,498 |
| essv25916896 | Remapped | Perfect | NC_000016.10:g.(71 089148_?)_(?_71168 148)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,089,148 | 71,168,148 |
| essv25929316 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712021 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,151 | ||
| essv25916895 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_711219 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,121,901 | ||
| essv25915167 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712018 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,201,851 | ||
| essv25927508 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712019 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,201,901 | ||
| essv25931011 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712022 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,201 | ||
| essv25908250 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,301 | ||
| essv25980775 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,301 | ||
| essv25920297 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv25947240 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,401 | ||
| essv25916896 | Submitted genomic | NC_000016.9:g.(711 23051_?)_(?_712020 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,123,051 | 71,202,051 |