A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569813



Internal ID18698011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167886977..168064683hg38UCSC Ensembl
Innerchr4:168808128..168985834hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38177707
hg19177707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1544e212
Supporting Variantsessv9772960
Samples401110GJ
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)esv3569813
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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