A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577610



Internal ID18359122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:22658726..23269474hg38UCSC Ensembl
InnerchrY:24804873..25415621hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38610749
hg19610749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834462
Samples400606HW
Known GenesBPY2, BPY2B, BPY2C, DAZ1, DAZ2, DAZ3, DAZ4, TTTY17A, TTTY17B, TTTY17C, TTTY4, TTTY4B, TTTY4C
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)esv3577610
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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