A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757936



Internal ID9980013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57187251..57788857hg38UCSC Ensembl
Innerchr4:58053417..58655023hg19UCSC Ensembl
Innerchr4:57748174..58349780hg18UCSC Ensembl
Innerchr4:57894345..58495951hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38601607
hg19601607
hg18601607
hg17601607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759253
Supporting Variantsessv19656
SamplesNA12264
Known GenesIGFBP7-AS1
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)esv2757936
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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