A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576719



Internal ID18704917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137339864..137369871hg38UCSC Ensembl
Innerchr9:140234316..140264323hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3830008
hg1930008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190e212
Supporting Variantsessv9791904, essv9791905, essv9791902, essv9791906, essv9791903
Samples402033WD, 401623SN, 400639RP, 400454RE, 401781SL
Known GenesEXD3
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)esv3576719
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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