A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv469e212



Internal ID20148925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27493218..27498416hg38UCSC Ensembl
chr12:27646151..27651349hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg385199
hg195199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580199, esv3580201
Samples401149VA, 401307VR, 400225CJ, 401725MR, 400013TA, 400503HD, 400308SP, 400079AP
Known GenesSMCO2
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)dgv469e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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