A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11929n54



Internal ID20145353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7788513..7887023hg38UCSC Ensembl
chr8:7646035..7744545hg19UCSC Ensembl
chr8:7683445..7781955hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3898511
hg1998511
hg1898511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610109, nsv610101
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11929n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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