A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9776059



Internal ID18308892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130637365..131735693hg38UCSC Ensembl
Innerchr5:129973058..131071386hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381098329
hg191098329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575881
Supporting Variants
Samples400852WJ
Known GenesCDC42SE2, FNIP1, HINT1, LYRM7, RAPGEF6
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
CommentsNumber of probes=844
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9776059
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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