A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583164



Internal ID18364676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77238989..77255913hg38UCSC Ensembl
Innerchr18:74950945..74967869hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816925
hg1916925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1005e212
Supporting Variantsessv9816228, essv9816235, essv9816234, essv9816227, essv9816230, essv9816231, essv9816232, essv9816229
Samples400987FB, 401355CD, 402016HZ, 401766MR, 400352CA, 400171BJ, 401149VA, 400205SP
Known GenesGALR1
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)esv3583164
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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