A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9818283



Internal ID18326183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54937457..54998307hg38UCSC Ensembl
Innerchr19:55448825..55509675hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3860851
hg1960851
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583572
Supporting Variants
Samples401372RR
Known GenesNLRP2, NLRP7, RNU6-35P, RNU6-64P
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=36
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9818283
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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