A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv583e212



Internal ID22783510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110011421..110032317hg38UCSC Ensembl
chr13:110663768..110684664hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3820897
hg1920897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580894, esv3580896, esv3580895
Samples402028BD, 400333CC, 401764JJ, 401616WP
Known Genes
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)dgv583e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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