A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20291



Internal ID9958145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103279946..103357128hg38UCSC Ensembl
Innerchr6:103727821..103805003hg19UCSC Ensembl
Innerchr6:103834514..103911696hg18UCSC Ensembl
Innerchr6:103834514..103911696hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3877183
hg1977183
hg1877183
hg1777183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758072
Supporting Variants
SamplesNA12144
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)essv20291
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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