A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834406



Internal ID18666281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:20066741..20327458hg38UCSC Ensembl
InnerchrY:22228627..22489344hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38260718
hg19260718
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575107
Supporting Variants
Samples401182OC
Known Genes
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=48
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834406
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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