A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573283



Internal ID18701481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:82762312..82785759hg38UCSC Ensembl
Innerchr9:85377227..85400674hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3823448
hg1923448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2167e212
Supporting Variantsessv9791166
Samples400053LE
Known Genes
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)esv3573283
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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