A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758169



Internal ID9633628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118931070..119263510hg38UCSC Ensembl
Innerchr8:119943309..120275750hg19UCSC Ensembl
Innerchr8:120012490..120344931hg18UCSC Ensembl
Innerchr8:120012490..120344931hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38332441
hg19332442
hg18332442
hg17332442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759639
Supporting Variantsessv8481, essv5532
SamplesNA18529, NA18516
Known GenesCOLEC10, MAL2, 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)esv2758169
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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