A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12346



Internal ID9609610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130099327..130260110hg38UCSC Ensembl
Innerchr11:129969222..130130005hg19UCSC Ensembl
Innerchr11:129474432..129635215hg18UCSC Ensembl
Innerchr11:129474432..129635215hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38160784
hg19160784
hg18160784
hg17160784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758288
Supporting Variants
SamplesNA19138
Known GenesAPLP2, ST14, ZBTB44
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)essv12346
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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