A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573276



Internal ID18354788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77462081..77471367hg38UCSC Ensembl
Innerchr9:80076997..80086283hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg389287
hg199287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791149
Samples400213DB
Known GenesGNA14
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)esv3573276
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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