A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv232e212



Internal ID19007440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48739597..48744065hg38UCSC Ensembl
chr10:49947642..49952110hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg384469
hg194469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578862, esv3578861
Samples401359HF, 400323AA
Known GenesWDFY4
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)dgv232e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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