A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6968n100



Internal ID20158584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7872528..7930151hg38UCSC Ensembl
chr8:7730050..7787673hg19UCSC Ensembl
chr8:7767460..7825083hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3857624
hg1957624
hg1857624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034658, nsv1024772
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6968n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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