A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11930n54



Internal ID20145354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7788513..7957257hg38UCSC Ensembl
chr8:7646035..7814779hg19UCSC Ensembl
chr8:7683445..7852189hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38168745
hg19168745
hg18168745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610104, nsv610106, nsv610105, nsv610103, nsv610107
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11930n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer