esv3584567
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:32,876
- 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: 661 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 815 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 627 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584567 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 494,569 | 527,444 |
| esv3584567 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,259,359 | 2,292,234 |
| esv3584567 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 293,970 | 326,845 |
| esv3584567 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,246,766 | 2,295,570 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838669 | copy number gain | OA053 | SNP array | Probe signal intensity | 35 |
| essv9838670 | copy number gain | KSF008 | SNP array | Probe signal intensity | 54 |
| essv9838671 | copy number gain | 8S | SNP array | Probe signal intensity | 39 |
| essv9838672 | copy number gain | 1WS | SNP array | Probe signal intensity | 43 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838669 | Remapped | Pass | NT_187576.1:g.(?_4 94569)_(527444_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 494,569 | 527,444 |
| essv9838670 | Remapped | Pass | NT_187576.1:g.(?_4 94569)_(527444_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 494,569 | 527,444 |
| essv9838671 | Remapped | Pass | NT_187576.1:g.(?_4 94569)_(527444_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 494,569 | 527,444 |
| essv9838672 | Remapped | Pass | NT_187576.1:g.(?_4 94569)_(527444_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 494,569 | 527,444 |
| essv9838669 | Remapped | Pass | NW_003571042.1:g.( ?_293970)_(326845_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 293,970 | 326,845 |
| essv9838670 | Remapped | Pass | NW_003571042.1:g.( ?_293970)_(326845_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 293,970 | 326,845 |
| essv9838671 | Remapped | Pass | NW_003571042.1:g.( ?_293970)_(326845_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 293,970 | 326,845 |
| essv9838672 | Remapped | Pass | NW_003571042.1:g.( ?_293970)_(326845_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 293,970 | 326,845 |
| essv9838669 | Remapped | Pass | NC_000008.10:g.(?_ 2259359)_(2292234_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,259,359 | 2,292,234 |
| essv9838670 | Remapped | Pass | NC_000008.10:g.(?_ 2259359)_(2292234_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,259,359 | 2,292,234 |
| essv9838671 | Remapped | Pass | NC_000008.10:g.(?_ 2259359)_(2292234_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,259,359 | 2,292,234 |
| essv9838672 | Remapped | Pass | NC_000008.10:g.(?_ 2259359)_(2292234_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,259,359 | 2,292,234 |
| essv9838669 | Submitted genomic | NC_000008.9:g.(?_2 246766)_(2295570_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,246,766 | 2,295,570 | ||
| essv9838670 | Submitted genomic | NC_000008.9:g.(?_2 246766)_(2295570_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,246,766 | 2,295,570 | ||
| essv9838671 | Submitted genomic | NC_000008.9:g.(?_2 246766)_(2295570_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,246,766 | 2,295,570 | ||
| essv9838672 | Submitted genomic | NC_000008.9:g.(?_2 246766)_(2295570_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,246,766 | 2,295,570 |