A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579134



Internal ID18707332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:114092418..114118691hg38UCSC Ensembl
Innerchr10:115852177..115878450hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3826274
hg1926274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287e212
Supporting Variantsessv9794931, essv9794936, essv9794946, essv9794932, essv9794939, essv9794945, essv9794947, essv9794941, essv9794948, essv9794937, essv9794949, essv9794940, essv9794934, essv9794943, essv9794942, essv9794935, essv9794938
Samples400880TM, 401931JL, 400059SV, 400347VJ, 401252AE, 400341GL, 400717BD, 400302HW, 401870FB, 400040CN, 401834CB, 401863BD, 401230NL, 401862AN, 401259LS, 400788PV, 400835FD
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)esv3579134
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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