A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576659



Internal ID18358171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69483669..69512249hg38UCSC Ensembl
Innerchr9:72098585..72127165hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3828581
hg1928581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2156e212
Supporting Variantsessv9791023, essv9791026, essv9791024, essv9791021
Samples400506GN, 401281BP, 401695BT, 400598DA
Known GenesAPBA1
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)esv3576659
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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