A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11987



Internal ID9609210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34306400..34519881hg38UCSC Ensembl
Innerchr15:34598601..34812082hg19UCSC Ensembl
Innerchr15:32385893..32599374hg18UCSC Ensembl
Innerchr15:32385893..32599374hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38213482
hg19213482
hg18213482
hg17213482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758376
Supporting Variants
SamplesNA18517
Known GenesGOLGA8A, LPCAT4, MIR1233-1, MIR1233-2, NOP10, NUTM1, SLC12A6
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)essv11987
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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