A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834506



Internal ID18289854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:23697393..24014090hg38UCSC Ensembl
InnerchrY:25843540..26160237hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38316698
hg19316698
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577630
Supporting Variants
Samples400298ME
Known GenesTTTY3, 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=92
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834506
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