A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573277



Internal ID18701475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81106003..81111511hg38UCSC Ensembl
Innerchr9:83720918..83726426hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg385509
hg195509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2165e212
Supporting Variantsessv9791152, essv9791153
Samples400503HD, 401331LJ
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)esv3573277
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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