A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758004



Internal ID9980081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:98059804..98214385hg38UCSC Ensembl
Innerchr5:97395508..97550089hg19UCSC Ensembl
Innerchr5:97421264..97575845hg18UCSC Ensembl
Innerchr5:97421264..97575845hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38154582
hg19154582
hg18154582
hg17154582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759357
Supporting Variantsessv13533, essv16286
SamplesNA19161, NA19160
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)esv2758004
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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