A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758267



Internal ID9633726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48282119..48835425hg38UCSC Ensembl
Innerchr11:48303671..48856977hg19UCSC Ensembl
Innerchr11:48260247..48813553hg18UCSC Ensembl
Innerchr11:48260247..48813553hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38553307
hg19553307
hg18553307
hg17553307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759824
Supporting Variantsessv4365, essv24383
SamplesNA18573, NA12707
Known GenesOR4A47, OR4C3, OR4C45, OR4S1
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)esv2758267
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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