A curated catalogue of human genomic structural variation




Variant Details

Variant: essv438



Internal ID9625951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130162757..130472822hg38UCSC Ensembl
Innerchr11:130032652..130342717hg19UCSC Ensembl
Innerchr11:129537862..129847927hg18UCSC Ensembl
Innerchr11:129537862..129847927hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38310066
hg19310066
hg18310066
hg17310066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758288
Supporting Variants
SamplesNA18952
Known GenesADAMTS15, ADAMTS8, 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)essv438
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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