Variant DetailsVariant: essv9816493Internal ID | 18320388 | Landmark | | Location Information | | Cytoband | 19p13.3 | Allele length | Assembly | Allele length | hg38 | 36382 | hg19 | 36382 |
| Variant Type | CNV loss | Copy Number | 1 | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | esv3583203 | Supporting Variants | | Samples | 401200BD | Known Genes | MKNK2, MOB3A | Method | SNP array | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | Number of probes=9 | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | essv9816493
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
|
|