A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20225



Internal ID9618365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7978219..8130061hg38UCSC Ensembl
Innerchr8:7835741..7987583hg19UCSC Ensembl
Innerchr8:7873151..8024993hg18UCSC Ensembl
Innerchr8:7873151..8024993hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38151843
hg19151843
hg18151843
hg17151843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA12144
Known GenesDEFB109P1B, FAM66E, MIR548I3
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)essv20225
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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