A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573274



Internal ID18354786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77462081..77465506hg38UCSC Ensembl
Innerchr9:80076997..80080422hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg383426
hg193426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791142, essv9791143, essv9791147, essv9791148, essv9791144, essv9791146, essv9791141
Samples400948EV, 400033KC, 401532LJ, 400038CK, 401717LP, 400671PP, 401490TL
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)esv3573274
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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