A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758799



Internal ID9634258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47639666..47895335hg38UCSC Ensembl
Innerchr20:46268410..46524079hg19UCSC Ensembl
Innerchr20:45701817..45957486hg18UCSC Ensembl
Innerchr20:45701817..45957486hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38255670
hg19255670
hg18255670
hg17255670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758522
SamplesNA19093, NA06985, NA12003
Known GenesNCOA3, SULF2
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)esv2758799
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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