A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834521



Internal ID18301269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:23710498..24164981hg38UCSC Ensembl
InnerchrY:25856645..26311128hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38454484
hg19454484
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577636
Supporting Variants
Samples400620MT
Known GenesCDY1, CDY1B, TTTY3, TTTY3B
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=252
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834521
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer