A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834392



Internal ID18323463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:18421853..18862715hg38UCSC Ensembl
InnerchrY:20583739..21024601hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg38440863
hg19440863
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577592
Supporting Variants
Samples401295HB
Known GenesHSFY1, HSFY2, TTTY9A, TTTY9B
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=278
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834392
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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