esv3584804
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:125,492
- Publication(s):Mokhtar et al. 2014
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: 2091 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2091 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1242 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| esv3584804 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| esv3584804 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838840 | copy number loss | OA2A | SNP array | Probe signal intensity | 24 |
| essv9838841 | copy number loss | OA072 | SNP array | Probe signal intensity | 32 |
| essv9838844 | copy number loss | OA018 | SNP array | Probe signal intensity | 25 |
| essv9838846 | copy number loss | OA016 | SNP array | Probe signal intensity | 31 |
| essv9838847 | copy number loss | OA013 | SNP array | Probe signal intensity | 31 |
| essv9838848 | copy number loss | OA005 | SNP array | Probe signal intensity | 19 |
| essv9838849 | copy number loss | OA0039 | SNP array | Probe signal intensity | 24 |
| essv9838850 | copy number loss | KSM003 | SNP array | Probe signal intensity | 52 |
| essv9838851 | copy number loss | KSF024 | SNP array | Probe signal intensity | 42 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838840 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838841 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838844 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838846 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838847 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838848 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838849 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838850 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838851 | Remapped | Perfect | NC_000004.12:g.(?_ 68494770)_(6862026 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,494,770 | 68,620,261 |
| essv9838840 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838841 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838844 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838846 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838847 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838848 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838849 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838850 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838851 | Remapped | Perfect | NC_000004.11:g.(?_ 69360488)_(6948597 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,360,488 | 69,485,979 |
| essv9838840 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838841 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838844 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838846 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838847 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838848 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838849 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838850 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 | ||
| essv9838851 | Submitted genomic | NC_000004.10:g.(?_ 69043083)_(6916857 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,043,083 | 69,168,574 |