A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576541



Internal ID18704739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39368817..39529433hg38UCSC Ensembl
Innerchr8:39226336..39386952hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38160617
hg19160617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2066e212
Supporting Variantsessv9787852, essv9787854, essv9787849, essv9787857, essv9787860, essv9787846, essv9787845, essv9787848, essv9787850, essv9787856, essv9787851, essv9787847, essv9787859, essv9787858, essv9787853
Samples400634MP, 401183HP, 401556KR, 400588BE, 401165SB, 401386WA, 401084BD, 401504RJ, 401067BD, 401884WJ, 401677MM, 401057SS, 401012TP, 400173KP, 401102RD
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)esv3576541
Frequency
Sample Size873
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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