A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757934



Internal ID9980011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49055393..49658100hg38UCSC Ensembl
Innerchr4:49057410..49660117hg19UCSC Ensembl
Innerchr4:48752167..49354874hg18UCSC Ensembl
Innerchr4:48898338..49501045hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38602708
hg19602708
hg18602708
hg17602708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759251
Supporting Variantsessv6923, essv4260, essv20256
SamplesNA18603, NA18605, NA12144
Known GenesCWH43
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)esv2757934
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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