A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834380



Internal ID18339249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:16809431..17742940hg38UCSC Ensembl
InnerchrY:18921311..19854820hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38933510
hg19933510
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577585
Supporting Variants
Samples401781SL
Known GenesFAM224A, FAM224B, FAM41AY1, FAM41AY2
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=422
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834380
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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