A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12139n54



Internal ID22780034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:45927486..45946058hg38UCSC Ensembl
chr8:46839108..46857680hg19UCSC Ensembl
chr8:46958273..46976845hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3818573
hg1918573
hg1818573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611228, nsv611218, nsv611227
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12139n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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