A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758157



Internal ID9980234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49503304..49744792hg38UCSC Ensembl
Innerchr8:50415863..50657352hg19UCSC Ensembl
Innerchr8:50578416..50819905hg18UCSC Ensembl
Innerchr8:50578416..50819905hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38241489
hg19241490
hg18241490
hg17241490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759612
Supporting Variantsessv7362, essv3995, essv2592
SamplesNA18970, NA18990, NA18570
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)esv2758157
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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