A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2557e212



Internal ID22785484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22498314..22720862hg38UCSC Ensembl
chrY:24644461..24867009hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38222549
hg19222549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577609, esv3577607
Samples400730SH, 400013TA
Known GenesPRY, PRY2
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)dgv2557e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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