Variant DetailsVariant: dgv1652e212 Internal ID | 20150108 | Landmark | | Location Information | | Cytoband | 5q31.3 | Allele length | Assembly | Allele length | hg38 | 25018 | hg19 | 25018 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3570458, esv3570457, esv3570466, esv3570464 | Samples | 400599CP, 401962BK, 401151RJ, 401733CG, 400059SV, 400688FL, 400148MS, 401672FD, 400583HS, 400460DM, 400270BD, 400007RG, 401513KC, 401346FJ, 400047DS, 401919MD, 401940SJ, 400728PB, 400156WT, 401054VM, 400859SC, 401458RT, 400213DB, 400150SS, 400238BB | Known Genes | PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9 | 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) | dgv1652e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 25 | Observed Complex | 0 | Frequency | n/a |
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