A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758288



Internal ID9633747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130099327..130472822hg38UCSC Ensembl
Innerchr11:129969222..130342717hg19UCSC Ensembl
Innerchr11:129474432..129847927hg18UCSC Ensembl
Innerchr11:129474432..129847927hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38373496
hg19373496
hg18373496
hg17373496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759871
Supporting Variantsessv12346, essv438
SamplesNA19138, NA18952
Known GenesADAMTS15, ADAMTS8, APLP2, 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)esv2758288
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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