A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582589



Internal ID18710787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28255922..28263028hg38UCSC Ensembl
Innerchr17:26582948..26590054hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387107
hg197107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv903e212
Supporting Variantsessv9812913, essv9812914
Samples400287BP, 400603CJ
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)esv3582589
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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