Variant DetailsVariant: esv3584502Internal ID | 18423286 | Landmark | | Location Information | | Cytoband | 3p21.2 | Allele length | Assembly | Allele length | hg38 | 295256 | hg19 | 295256 | hg18 | 295256 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9837873 | Samples | 2RB | Known Genes | C3orf18, CACNA2D2, CISH, CYB561D2, HEMK1, MAPKAPK3, NPRL2, RASSF1, TMEM115, TUSC2, ZMYND10 | Method | SNP array | Analysis | We applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres. | Platform | Affymetrix Genome-Wide Human SNP Array 6.0 | Comments | | Reference | Mokhtar_et_al_2014 | Pubmed ID | 24956385 | Accession Number(s) | esv3584502
| Frequency | Sample Size | 34 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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