A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571880



Internal ID18700078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65147891..65630056hg38UCSC Ensembl
Innerchr7:64608269..65094968hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38482166
hg19486700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1916e212
Supporting Variantsessv9783982, essv9783984, essv9783983
Samples400732MA, 400525MR, 400164SS
Known GenesZNF92
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)esv3571880
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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