A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576474



Internal ID18357986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146190908..146222181hg38UCSC Ensembl
Innerchr7:145888000..145919273hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3831274
hg1931274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9785572
Samples400960TN
Known GenesCNTNAP2
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)esv3576474
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer