A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2543



Internal ID9623911
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 StatusS
Merged Variantsesv2757733
Supporting Variants
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)essv2543
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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