A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23230



Internal ID9621704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49190685..49319779hg38UCSC Ensembl
Innerchr11:49212237..49341331hg19UCSC Ensembl
Innerchr11:49168813..49297907hg18UCSC Ensembl
Innerchr11:49168813..49297907hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38129095
hg19129095
hg18129095
hg17129095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758269
Supporting Variants
SamplesNA07029
Known GenesFOLH1
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)essv23230
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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