A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758145



Internal ID9980222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2169690..2566769hg38UCSC Ensembl
Innerchr8:2117613..2423859hg19UCSC Ensembl
Innerchr8:2105020..2411266hg18UCSC Ensembl
Innerchr8:2105020..2411266hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38397080
hg19306247
hg18306247
hg17306247
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759582
Supporting Variantsessv9005, essv1862, essv16064, essv15543, essv17741, essv22922, essv21870, essv387, essv2063, essv12259, essv18099, essv5584
SamplesNA18949, NA19137, NA11993, NA12760, NA10831, NA18529, NA18976, NA11839, NA19101, NA19132, NA18501, NA18971
Known Genes
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)esv2758145
Frequency
Sample Size270
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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