A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834604



Internal ID18629241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:26198343..26277778hg38UCSC Ensembl
InnerchrY:28344490..28423925hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3879436
hg1979436
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575194
Supporting Variants
Samples400109LJ
Known Genes
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=124
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834604
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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