A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv446e212



Internal ID20148902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5977099..5986108hg38UCSC Ensembl
chr12:6086265..6095274hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389010
hg199010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580085, esv3580092
Samples401146US, 401385BB, 401842BJ, 400343BD, 400609FJ, 400705KK, 401215MJ
Known GenesVWF
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)dgv446e212
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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