A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578888



Internal ID18360400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51560953..51573806hg38UCSC Ensembl
Innerchr10:53320713..53333566hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3812854
hg1912854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236e212
Supporting Variantsessv9793617, essv9793613, essv9793616, essv9793608, essv9793609, essv9793610, essv9793618, essv9793612, essv9793607, essv9793619, essv9793620, essv9793615, essv9793614
Samples401420PJ, 400424LN, 400204SC, 401997HB, 400442FE, 400041LJ, 401251WN, 400082SD, 400458LS, 400044HS, 400323AA, 400879DS, 400833BB
Known GenesPRKG1
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)esv3578888
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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