A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv928e212



Internal ID20149384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45509002..45597851hg38UCSC Ensembl
chr17:43586368..43675217hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3888850
hg1988850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573242, esv3573275, esv3573264, esv3573253
Samples400739SS, 400802DP, 400051MR, 400525MR
Known GenesLRRC37A4P
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)dgv928e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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