A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2569e212



Internal ID22785496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:24364639..24894462hg38UCSC Ensembl
chrY:26510786..27040609hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38529824
hg19529824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575165, esv3575162, esv3575161, esv3575163, esv3575159
Samples401924ST, 400836LK, 401494PD, 400671PP, 401510DG
Known GenesBPY2, BPY2B, BPY2C, 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)dgv2569e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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