A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11090



Internal ID9608215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75700540..75865641hg38UCSC Ensembl
Innerchr3:75749691..75914792hg19UCSC Ensembl
Innerchr3:75832381..75997482hg18UCSC Ensembl
Innerchr3:75832381..75997482hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38165102
hg19165102
hg18165102
hg17165102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757875
Supporting Variants
SamplesNA19211
Known GenesMIR4273, ZNF717
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)essv11090
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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