A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579089



Internal ID18707287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:98431738..98441539hg38UCSC Ensembl
Innerchr10:100191495..100201296hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg389802
hg199802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv276e212
Supporting Variantsessv9794708, essv9794709, essv9794702, essv9794704, essv9794707, essv9794706, essv9794712, essv9794715, essv9794705, essv9794703, essv9794710, essv9794713, essv9794714
Samples400599CP, 400572PJ, 401427CB, 401030GI, 400827MM, 400600DP, 401717LP, 400242TP, 400422PN, 401514BA, 400728PB, 401365DJ, 400269DA
Known GenesHPS1
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)esv3579089
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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