A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569868



Internal ID18698066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185621413..185635581hg38UCSC Ensembl
Innerchr4:186542567..186556735hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3814169
hg1914169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554e212
Supporting Variantsessv9773419, essv9773418
Samples401210PB, 401535RJ
Known GenesSORBS2
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)esv3569868
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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