A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580449



Internal ID18708647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851816..7971452hg38UCSC Ensembl
Innerchr12:8004412..8124048hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38119637
hg19119637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449e212
Supporting Variantsessv9800072, essv9800086, essv9800084, essv9800069, essv9800073, essv9800080, essv9800071, essv9800082, essv9800074, essv9800091, essv9800085, essv9800083, essv9800079, essv9800087, essv9800076, essv9800081, essv9800075, essv9800088
Samples401110GJ, 400114GR, 401385BB, 401330RR, 400141CC, 400953MR, 401308LD, 401184MM, 400307HW, 400356MC, 400763BT, 400758KP, 400014SL, 400999HR, 401057SS, 400471YS, 401612HB, 400243CK
Known GenesSLC2A14, SLC2A3
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)esv3580449
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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