A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv438e212



Internal ID19007646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2126775..2150788hg38UCSC Ensembl
chr12:2235941..2259954hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3824014
hg1924014
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv438e212
Frequency
Sample Size873
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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