A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12350



Internal ID9974775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109269265..109557203hg38UCSC Ensembl
Innerchr13:109921613..110209550hg19UCSC Ensembl
Innerchr13:108719614..109007551hg18UCSC Ensembl
Innerchr13:108719614..109007551hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38287939
hg19287938
hg18287938
hg17287938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758343
Supporting Variants
SamplesNA19138
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)essv12350
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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