A curated catalogue of human genomic structural variation




Variant Details

Variant: essv790



Internal ID9629862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75747474..75929398hg38UCSC Ensembl
Innerchr13:76321610..76503534hg19UCSC Ensembl
Innerchr13:75219611..75401535hg18UCSC Ensembl
Innerchr13:75219611..75401535hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38181925
hg19181925
hg18181925
hg17181925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758333
Supporting Variants
SamplesNA18956
Known GenesC13orf45, LMO7
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)essv790
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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