A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268



Internal ID9626938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48903864..49046072hg38UCSC Ensembl
Innerchr11:48925416..49067624hg19UCSC Ensembl
Innerchr11:48881992..49024200hg18UCSC Ensembl
Innerchr11:48881992..49024200hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38142209
hg19142209
hg18142209
hg17142209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758268
Supporting Variants
SamplesNA18624
Known GenesTRIM49B
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)essv5268
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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