A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293e212



Internal ID22783220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122582087..122598537hg38UCSC Ensembl
chr10:124341603..124358053hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3816451
hg1916451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577817, esv3577782, esv3577806, esv3577828
Samples401191MI, 400478WE, 400002HK, 401873BK, 400053LE
Known GenesDMBT1
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)dgv293e212
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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