A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11909



Internal ID9609124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12331478..12709792hg38UCSC Ensembl
Innerchr8:12188987..12567301hg19UCSC Ensembl
Innerchr8:12233358..12611672hg18UCSC Ensembl
Innerchr8:12233358..12611672hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38378315
hg19378315
hg18378315
hg17378315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA18502
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
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)essv11909
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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