A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757948



Internal ID9980025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114085964..114254068hg38UCSC Ensembl
Innerchr4:115007120..115175224hg19UCSC Ensembl
Innerchr4:115226569..115394673hg18UCSC Ensembl
Innerchr4:115364724..115532828hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38168105
hg19168105
hg18168105
hg17168105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759274
Supporting Variantsessv10021, essv16295, essv16968, essv14449, essv17143, essv11740, essv13907, essv14767, essv11161, essv17299, essv11553
SamplesNA18504, NA19171, NA19201, NA19159, NA19161, NA18856, NA19099, NA19144, NA19173, NA19211, NA18854
Known Genes
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)esv2757948
Frequency
Sample Size270
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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