A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568936



Internal ID18697134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99218082..99246005hg38UCSC Ensembl
Innerchr3:98936926..98964849hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3827924
hg1927924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1396e212
Supporting Variantsessv9767676, essv9767681, essv9767677, essv9767680, essv9767675, essv9767673, essv9767679, essv9767672, essv9767674, essv9767671
Samples401966SR, 401384BP, 401434VN, 401308LD, 400743LS, 400134WK, 400609FJ, 401119DK, 400069CN, 400508RD
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)esv3568936
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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