A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1256e212



Internal ID20149712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57498626..57509690hg38UCSC Ensembl
chr20:56073682..56084746hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3811065
hg1911065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568079, esv3568080
Samples401881TJ, 400356MC
Known GenesCTCFL
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)dgv1256e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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