A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577595



Internal ID18705793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21545373..21734427hg38UCSC Ensembl
InnerchrY:23707259..23896313hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38189055
hg19189055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2555e212
Supporting Variantsessv9834447
Samples400730SH
Known GenesRBMY1A1, RBMY1B, RBMY1D, TTTY13
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)esv3577595
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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