A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv530e212



Internal ID22783457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130993694..131330389hg38UCSC Ensembl
chr12:131478239..131814934hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38336696
hg19336696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582038, esv3582049
Samples401104DM, 4000657TM
Known GenesGPR133, LOC116437
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)dgv530e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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