A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2560e212



Internal ID20151016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22844131..23526986hg38UCSC Ensembl
chrY:24990278..25673133hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38682856
hg19682856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577615, esv3577617
Samples401489CB, 400620MT
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)dgv2560e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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