A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576583



Internal ID18358095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46400352..46583083hg38UCSC Ensembl
Innerchr10:46966534..47149411hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38182732
hg19182878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv219e212
Supporting Variantsessv9793251, essv9793253, essv9793260, essv9793254, essv9793262, essv9793252, essv9793263, essv9793259, essv9793258, essv9793261
Samples400649PS, 401852SK, 400821FE, 401434VN, 400282RA, 401822TL, 401333MM, 401580CA, 400671PP, 402024BB
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)esv3576583
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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