A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575117



Internal ID18356629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:22431692..22490968hg38UCSC Ensembl
InnerchrY:24577839..24637115hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3859277
hg1959277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834457
Samples401636WR
Known GenesPRY, PRY2, TTTY6, TTTY6B
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)esv3575117
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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