A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv280e212



Internal ID20148736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103390805..103464349hg38UCSC Ensembl
chr10:105150562..105224106hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3873545
hg1973545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577682, esv3577671
Samples400855BD, 401084TD
Known GenesCALHM1, CALHM2, MIR1307, PDCD11, USMG5
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)dgv280e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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