A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569941



Internal ID18698139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7177225..7210690hg38UCSC Ensembl
Innerchr5:7177338..7210803hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3833466
hg1933466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1573e212
Supporting Variantsessv9773984, essv9773983
Samples401820SD, 400060MC
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)esv3569941
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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