A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583455



Internal ID18711653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49165806..49183333hg38UCSC Ensembl
Innerchr19:49669063..49686590hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3817528
hg1917528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1057e212
Supporting Variantsessv9817698, essv9817702, essv9817703, essv9817701, essv9817700
Samples400880TM, 401183HP, 400134WK, 401050GS, 400978JG
Known GenesTRPM4
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)esv3583455
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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