A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16016



Internal ID9613688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18797182..19060521hg38UCSC Ensembl
Innerchr11:18818729..19082068hg19UCSC Ensembl
Innerchr11:18775305..19038644hg18UCSC Ensembl
Innerchr11:18775305..19038644hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38263340
hg19263340
hg18263340
hg17263340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758257
Supporting Variants
SamplesNA18501
Known GenesMRGPRX1, MRGPRX2
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)essv16016
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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