Variant DetailsVariant: esv3581252 Internal ID | 18362764 | Landmark | | Location Information | | Cytoband | 14q23.3 | Allele length | Assembly | Allele length | hg38 | 8089 | hg19 | 8089 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9805971, essv9805972, essv9805975, essv9805970, essv9805973, essv9805974 | Samples | 400512LR, 400970VE, 401931JL, 400871CM, 400788PV, 401166WJ | Known Genes | GPHN | 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 | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3581252
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 6 | Observed Complex | 0 | Frequency | n/a |
|
|