A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580731



Internal ID18708929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68664010..68690540hg38UCSC Ensembl
Innerchr13:69238142..69264672hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3826531
hg1926531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557e212
Supporting Variantsessv9803661, essv9803660, essv9803663, essv9803664, essv9803665, essv9803659, essv9803662
Samples401819BS, 400140WM, 400600DP, 401262RR, 401595BL, 400722OM, 401858TP
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)esv3580731
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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