A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582547



Internal ID18710745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16593075..16606899hg38UCSC Ensembl
Innerchr17:16496389..16510213hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813825
hg1913825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv891e212
Supporting Variantsessv9812758, essv9812757
Samples401972BA, 400158FB
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)esv3582547
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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