A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23028



Internal ID9621479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39388279..39548205hg38UCSC Ensembl
Innerchr8:39245798..39405724hg19UCSC Ensembl
Innerchr8:39364955..39524881hg18UCSC Ensembl
Innerchr8:39364955..39524881hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38159927
hg19159927
hg18159927
hg17159927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758154
Supporting Variants
SamplesNA12812
Known GenesADAM3A, ADAM5
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)essv23028
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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