A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572271



Internal ID18700469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148017618..148024394hg38UCSC Ensembl
Innerchr7:147714710..147721486hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386777
hg196777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1988e212
Supporting Variantsessv9785868, essv9785865, essv9785864, essv9785869, essv9785863, essv9785870
Samples401420PJ, 400107MJ, 400285FA, 400960TN, 400050RL, 400645KM
Known GenesCNTNAP2, MIR548F3, MIR548T
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)esv3572271
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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