Variant DetailsVariant: dgv1983e212 Internal ID | 20150439 | Landmark | | Location Information | | Cytoband | 7q35 | Allele length | Assembly | Allele length | hg38 | 4786 | hg19 | 4786 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3572247, esv3572246 | Samples | 401366WD, 401162TM, 400569WC, 401852SK, 401769CR, 40031BA, 400294HD, 401911FL, 401845MJ, 400625FT, 400509CJ, 400953MR, 401281BP, 400482MD, 401869BG, 400231LP, 402012RR, 400749VW, 400033KC, 400307HW, 401155ML, 401550SP, 401791FG, 400733SW, 401764JJ, 400793BR, 400983PV, 401725MR, 400615RI, 400302HW, 400007RG, 401494PD, 401694SG, 401652HL, 400758KP, 400381CA, 400050RL, 402054BD, 400603CJ, 401875FG, 401307VR, 400474GF, 400430KV, 400444MM, 400454RE, 400722OM, 400156WT, 400863SS, 401054VM, 401571SD, 401166WJ, 400013TA, 400238BB, 401066MM, 400255CD | Known Genes | CNTNAP2 | 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) | dgv1983e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 55 | Observed Complex | 0 | Frequency | n/a |
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