A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24383



Internal ID9622984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48282119..48842054hg38UCSC Ensembl
Innerchr11:48303671..48863606hg19UCSC Ensembl
Innerchr11:48260247..48820182hg18UCSC Ensembl
Innerchr11:48260247..48820182hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38559936
hg19559936
hg18559936
hg17559936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758267, esv2758268
Supporting Variants
SamplesNA12707
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)essv24383
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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