A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573245



Internal ID18701443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69342006..69349725hg38UCSC Ensembl
Innerchr9:71956922..71964641hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg387720
hg197720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791013, essv9791012
Samples401075MN, 401571SD
Known GenesFAM189A2
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)esv3573245
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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