A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9769555



Internal ID18286641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1041074..1138021hg38UCSC Ensembl
Innerchr4:1034862..1131809hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3896948
hg1996948
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575669
Supporting Variants
Samples400227MM
Known GenesRNF212, TMED11P
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=160
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9769555
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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