A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172e212



Internal ID22783099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5161302..5182506hg38UCSC Ensembl
chr10:5203265..5224469hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3821205
hg1921205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578597, esv3578598
Samples401845MJ, 400203NA, 401359HF, 400243CK, 400704LC
Known GenesAKR1CL1
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)dgv172e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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