A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1771e212



Internal ID22784698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49960403..49970935hg38UCSC Ensembl
chr6:49928116..49938648hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571050, esv3571049
Samples401706BJ, 400439IM, 401899MB, 400948EV, 401297KC, 400337HG, 400022WA, 401732HW
Known GenesDEFB113, DEFB114
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)dgv1771e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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