A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1252e212



Internal ID20149708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54035510..54046022hg38UCSC Ensembl
chr20:52652049..52662561hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810513
hg1910513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568057, esv3568052, esv3568048, esv3568067, esv3568051, esv3568028, esv3568058
Samples400230TB, 401183HP, 400600DP, 402029KJ, 400983PV, 400124FR, 401458RT, 401612HB
Known GenesBCAS1
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)dgv1252e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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