A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758482



Internal ID9633941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77206470..77465982hg38UCSC Ensembl
Innerchr18:74918426..75177938hg19UCSC Ensembl
Innerchr18:73047414..73306926hg18UCSC Ensembl
Innerchr18:73047414..73306926hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38259513
hg19259513
hg18259513
hg17259513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758740
Supporting Variantsessv18322, essv17607, essv24784, essv13899, essv18106, essv2286, essv7569, essv18658, essv7856, essv7715, essv5409, essv23653, essv22155
SamplesNA18545, NA10857, NA18633, NA18563, NA10846, NA18558, NA18966, NA11993, NA12753, NA10863, NA12234, NA10860, NA18854
Known GenesGALR1
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)esv2758482
Frequency
Sample Size270
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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