A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11967n54



Internal ID20145391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12307099..12419765hg38UCSC Ensembl
chr8:12164608..12277274hg19UCSC Ensembl
chr8:12208978..12321645hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38112667
hg19112667
hg18112668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610322, nsv610323
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM90A25P, LOC100133267, LOC649352
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11967n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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