A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575244



Internal ID18356756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55522427..56940881hg38UCSC Ensembl
Innerchr2:55749563..57168016hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381418455
hg191418454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825200
Samples401968HL
Known GenesCCDC104, CCDC85A, EFEMP1, MIR216A, MIR216B, MIR217, PNPT1, SMEK2
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)esv3575244
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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