A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580399



Internal ID18361911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401982..99404127hg38UCSC Ensembl
Innerchr12:99795760..99797905hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382146
hg192146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801972, essv9801971
Samples401475MK, 401261HD
Known GenesANKS1B
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)esv3580399
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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