A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758938



Internal ID9634397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64211465..64310713hg38UCSC Ensembl
Innerchr1:64677148..64776396hg19UCSC Ensembl
Innerchr1:64449736..64548984hg18UCSC Ensembl
Innerchr1:64389169..64488417hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3899249
hg1999249
hg1899249
hg1799249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757733
SamplesNA19003
Known GenesUBE2U
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)esv2758938
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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