A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834566



Internal ID18629247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24892077..25289007hg38UCSC Ensembl
InnerchrY:27038224..27435154hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38396931
hg19396931
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577648
Supporting Variants
Samples400109LJ
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
CommentsNumber of probes=52
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834566
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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