A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759085



Internal ID9634544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113317372..113671101hg38UCSC Ensembl
Innerchr2:114074949..114428678hg19UCSC Ensembl
Innerchr2:113791419..114145148hg18UCSC Ensembl
Innerchr2:113791179..114144908hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38353730
hg19353730
hg18353730
hg17353730
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757826, esv2757827
SamplesNA18563, NA07048, NA19000
Known GenesCBWD2, DDX11L2, FAM138B, FOXD4L1, RABL2A, RPL23AP7, WASH2P
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)esv2759085
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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