A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1159



Internal ID9608769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58932619..59111366hg38UCSC Ensembl
Innerchr11:58700092..58878839hg19UCSC Ensembl
Innerchr11:58456668..58635415hg18UCSC Ensembl
Innerchr11:58456668..58635415hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38178748
hg19178748
hg18178748
hg17178748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758272
Supporting Variants
SamplesNA18951
Known GenesFAM111B, GLYATL1, LOC283194
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)essv1159
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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