A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6962n100



Internal ID20158578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7775544..7982308hg38UCSC Ensembl
chr8:7633066..7839830hg19UCSC Ensembl
chr8:7670476..7877240hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38206765
hg19206765
hg18206765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024999, nsv1030976, nsv1022602, nsv1022163, nsv1023395, nsv1026107
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6962n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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