A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv575e212



Internal ID19007783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95282409..95386066hg38UCSC Ensembl
chr13:95934663..96038320hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38103658
hg19103658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582738, esv3582727
Samples400738WM, 401940SJ
Known GenesABCC4
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)dgv575e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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