A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569858



Internal ID18698056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184833929..184857219hg38UCSC Ensembl
Innerchr4:185755083..185778373hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3823291
hg1923291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9773337
Samples400295PS
Known GenesLOC731424, MIR3945
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)esv3569858
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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