A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834375



Internal ID18671943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:14021710..14180158hg38UCSC Ensembl
InnerchrY:16133590..16292038hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38158449
hg19158449
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577584
Supporting Variants
Samples401355CD
Known GenesVCY, VCY1B
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=213
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834375
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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