A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9777987



Internal ID18340601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4086517..4096135hg38UCSC Ensembl
Innerchr6:4086751..4096369hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg389619
hg199619
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570734
Supporting Variants
Samples401818PC
Known GenesC6orf201
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9777987
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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