Variant DetailsVariant: dgv645e212 Internal ID | 20149101 | Landmark | | Location Information | | Cytoband | 14q23.3 | Allele length | Assembly | Allele length | hg38 | 6676 | hg19 | 6676 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3581244, esv3581245, esv3581242, esv3581241, esv3581246 | Samples | 401474CE, 401077VC, 400272AE, 401198TI, 400577MK, 401725MR, 400361HC, 400837HN, 400328LM, 401143LK, 400785AK | 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) | dgv645e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
|
|