A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759471



Internal ID9634930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134302993..134390005hg38UCSC Ensembl
Innerchr6:134624131..134711143hg19UCSC Ensembl
Innerchr6:134665824..134752836hg18UCSC Ensembl
Innerchr6:134665824..134752836hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3887013
hg1987013
hg1887013
hg1787013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758081
SamplesNA18948
Known GenesSGK1
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)esv2759471
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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