A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759882



Internal ID9635341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20789281..20964886hg38UCSC Ensembl
Innerchr12:20942215..21117820hg19UCSC Ensembl
Innerchr12:20833482..21009087hg18UCSC Ensembl
Innerchr12:20833482..21009087hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38175606
hg19175606
hg18175606
hg17175606
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758297
SamplesNA12814, NA12812, NA10846, NA10854, NA18860, NA12762, NA18949, NA12003, NA10830, NA19154, NA12144, NA18608, NA12057, NA12874
Known GenesSLCO1B3
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759882
Frequency
Sample Size270
Observed Gain12
Observed Loss2
Observed Complex0
Frequencyn/a


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