A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21038



Internal ID9619268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8047485..8449233hg38UCSC Ensembl
Innerchr8:7905007..8306743hg19UCSC Ensembl
Innerchr8:7942417..8344153hg18UCSC Ensembl
Innerchr8:7942417..8344153hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38401749
hg19401737
hg18401737
hg17401737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA06991
Known GenesFAM86B3P, MIR548I3, SGK223
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)essv21038
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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