A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572367



Internal ID18700565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157016941..157035430hg38UCSC Ensembl
Innerchr7:156809635..156828124hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3818490
hg1918490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2012e212
Supporting Variantsessv9786606, essv9786611, essv9786608, essv9786607, essv9786604, essv9786605, essv9786613, essv9786614, essv9786612, essv9786602, essv9786609, essv9786603
Samples401489CB, 401074CM, 401064FR, 400343BD, 400061DE, 400564SN, 400002HK, 400123WN, 400014SL, 401874DJ, 401661HD, 401735LE
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)esv3572367
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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