A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759610



Internal ID9981755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47268230..47479881hg38UCSC Ensembl
Innerchr8:48180822..48392443hg19UCSC Ensembl
Innerchr8:48343375..48554996hg18UCSC Ensembl
Innerchr8:48343375..48554996hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38211652
hg19211622
hg18211622
hg17211622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758155
SamplesNA12248
Known GenesSPIDR
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)esv2759610
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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