A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv438e212

Internal ID19007646
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2126775..2150788hg38UCSC Ensembl
chr12:2235941..2259954hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580045, esv3580056, esv3580043, esv3580057, esv3580048
Samples400474GF, 400375KA, 401619BT, 400942HR, 401785MJ, 401500OM, 401165SB, 401556KR, 401566DD, 401074CM, 400837HN, 400093BL, 401927SK, 400759FV, 402051AF, 400625FT, 400278PD, 401594MP, 401950MD, 400205SP, 400460DM, 401177SL, 401068SD, 400523GB, 402029KJ, 400383HL, 401844ZD, 400829MR, 400077EB, 400337HG, 400385LJ, 400852WJ, 400876OG, 400739SS, 400320RN, 400496BL, 400325BE, 401050GS, 401368WR, 400109LJ, 401497PR, 401053MF, 401606CG, 401093VL, 401852SK, 400606HW, 401268PS
Known GenesCACNA1C
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Pubmed ID25503493
Accession Number(s)dgv438e212
Sample Size873
Observed Gain0
Observed Loss47
Observed Complex0

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