A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4848



Internal ID9963323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97497948..97703416hg38UCSC Ensembl
Innerchr3:97216792..97422260hg19UCSC Ensembl
Innerchr3:98699482..98904950hg18UCSC Ensembl
Innerchr3:98699482..98904950hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38205469
hg19205469
hg18205469
hg17205469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757880
Supporting Variants
SamplesNA18540
Known GenesEPHA6
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)essv4848
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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