A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580405



Internal ID18361917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6826466..6903969hg38UCSC Ensembl
Innerchr12:6935631..7013133hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3877504
hg1977503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800049
Samples401465TB
Known GenesCDCA3, DSTNP2, GNB3, GPR162, LEPREL2, RPL13P5, SPSB2, TPI1, USP5
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)esv3580405
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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