A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568675



Internal ID18350187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121431098..121597137hg38UCSC Ensembl
Innerchr1:121172958..121338935hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38166040
hg19165978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86e212
Supporting Variantsessv9786722
Samples402061PI
Known GenesEMBP1
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)esv3568675
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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