A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576544



Internal ID18704742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389579..39526818hg38UCSC Ensembl
Innerchr8:39247098..39384337hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38137240
hg19137240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2066e212
Supporting Variantsessv9787920, essv9787912, essv9787905, essv9787926, essv9787916, essv9787914, essv9787904, essv9787924, essv9787915, essv9787923, essv9787909, essv9787917, essv9787925, essv9787907, essv9787902, essv9787906
Samples400364SS, 401734PG, 401077VC, 400620MT, 401390DG, 400528LR, 400674CA, 401831TW, 401801LA, 401376RD, 401870FB, 401478RD, 400378HL, 401295HB, 401912HD, 400108BJ
Known GenesADAM3A, ADAM5
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)esv3576544
Frequency
Sample Size873
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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