A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11931n54



Internal ID20145355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7788513..8052848hg38UCSC Ensembl
chr8:7646035..7910370hg19UCSC Ensembl
chr8:7683445..7947780hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38264336
hg19264336
hg18264336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610108, nsv610123
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11931n54
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