A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv467e212



Internal ID22783394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22202890..22209555hg38UCSC Ensembl
chr12:22355824..22362489hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386666
hg196666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580186, esv3580187
Samples401498HH, 400493KH, 400131CM, 400127MD, 401855RE, 400383HL, 400378HL, 401567BD
Known GenesST8SIA1
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)dgv467e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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