A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572282



Internal ID18700480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148235035..148237672hg38UCSC Ensembl
Innerchr7:147932127..147934764hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382638
hg192638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1991e212
Supporting Variantsessv9785890, essv9785891
Samples401175FA, 401696CG
Known GenesCNTNAP2, 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)esv3572282
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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