Variant DetailsVariant: dgv1545e212 Internal ID | 20150001 | Landmark | | Location Information | | Cytoband | 4q32.3 | Allele length | Assembly | Allele length | hg38 | 8406 | hg19 | 8406 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3569819, esv3569821 | Samples | 401005BL, 400821FE, 401956DQ, 401927SK, 400834SS, 400893ZE, 400298ME, 401780BB, 400127MD, 401393JW, 400515ZG, 401251WN, 400977SC, 400838AM, 401125LM, 401210PB, 400093BL, 400265LK, 401942MP, 401262RR, 400201PK, 400542EG, 401287CF, 401861GG, 401543DC, 401817MC, 400508RD, 400261RN, 401517PR | Known Genes | PALLD | 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) | dgv1545e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 29 | Observed Complex | 0 | Frequency | n/a |
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