A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577601



Internal ID18705799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:22007794..22057668hg38UCSC Ensembl
InnerchrY:24153941..24203815hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3849875
hg1949875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2556e212
Supporting Variantsessv9834453
Samples400013TA
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3577601
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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