A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572774



Internal ID18700972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57003776..57025754hg38UCSC Ensembl
Innerchr8:57916335..57938313hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3821979
hg1921979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2084e212
Supporting Variantsessv9788745, essv9788740, essv9788744, essv9788750, essv9788756, essv9788751, essv9788749, essv9788738, essv9788742, essv9788748, essv9788747, essv9788741, essv9788757, essv9788746, essv9788753, essv9788739, essv9788752
Samples400626FC, 401783BD, 401820SD, 402019MC, 400583HS, 401495NR, 401085LA, 400974PS, 400660GK, 401694SG, 400705KK, 401884WJ, 401025SM, 400971MK, 401056TJ, 401882CR, 401993HM
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)esv3572774
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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