A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21167



Internal ID9619411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3215282..3341881hg38UCSC Ensembl
Innerchr11:3236512..3363111hg19UCSC Ensembl
Innerchr11:3193088..3319687hg18UCSC Ensembl
Innerchr11:3193088..3319687hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38126600
hg19126600
hg18126600
hg17126600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758252
Supporting Variants
SamplesNA11830
Known GenesMRGPRE, MRGPRG, MRGPRG-AS1
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)essv21167
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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