A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5348



Internal ID9964219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38575705..38861804hg38UCSC Ensembl
Innerchr10:38868836..39154935hg19UCSC Ensembl
Innerchr10:38908842..39194941hg18UCSC Ensembl
Innerchr10:38908842..39194941hg17UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38286100
hg19286100
hg18286100
hg17286100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758214
Supporting Variants
SamplesNA18563
Known GenesACTR3BP5
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)essv5348
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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