A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757983



Internal ID9980060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12034192..12208328hg38UCSC Ensembl
Innerchr5:12034304..12208440hg19UCSC Ensembl
Innerchr5:12087304..12261440hg18UCSC Ensembl
Innerchr5:12087304..12261440hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38174137
hg19174137
hg18174137
hg17174137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759323
Supporting Variantsessv6830
SamplesNA18579
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)esv2757983
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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