A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8481



Internal ID2944176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118931070..119112023hg38UCSC Ensembl
Innerchr8:119943309..120124262hg19UCSC Ensembl
Innerchr8:120012490..120193443hg18UCSC Ensembl
Innerchr8:120012490..120193443hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38180954
hg19180954
hg18180954
hg17180954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758169
Supporting Variants
SamplesNA18516
Known GenesCOLEC10, TNFRSF11B
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)essv8481
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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