Variant DetailsVariant: esv3569136 Internal ID | 18350648 | Landmark | | Location Information | | Cytoband | 3q26.32 | Allele length | Assembly | Allele length | hg38 | 16886 | hg19 | 16886 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9769029, essv9769024, essv9769030, essv9769035, essv9769028, essv9769027, essv9769020, essv9769031, essv9769022, essv9769033, essv9769018, essv9769026, essv9769021, essv9769032, essv9769025, essv9769019 | Samples | 400649PS, 400987FB, 401285HN, 401487FW, 400852WJ, 402062KR, 400073HT, 400032RC, 401609MB, 401591BE, 401432SB, 400082SD, 400712GC, 401100SJ, 401728WK, 401517PR | Known Genes | KCNMB2 | 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) | esv3569136
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
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