A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6970n100



Internal ID20158586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7872528..8008628hg38UCSC Ensembl
chr8:7730050..7866150hg19UCSC Ensembl
chr8:7767460..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38136101
hg19136101
hg18136101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022003, nsv1028307, nsv1028081, nsv1024094, nsv1016837, nsv1017513, nsv1034278, nsv1030325
Samples
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4A, FAM66E, 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)dgv6970n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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