A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11919n54



Internal ID20145343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7421349..7536511hg38UCSC Ensembl
chr8:7278871..7394033hg19UCSC Ensembl
chr8:7266281..7381443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38115163
hg19115163
hg18115163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610071, nsv610075
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11919n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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