A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18658



Internal ID9616622
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 StatusS
Merged Variantsesv2758482
Supporting Variants
SamplesNA12234
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)essv18658
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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