A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6971n100



Internal ID20158587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7880901..7930428hg38UCSC Ensembl
chr8:7738423..7787950hg19UCSC Ensembl
chr8:7775833..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3849528
hg1949528
hg1849528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025717, nsv1017804, nsv1027483, nsv1026901, nsv1024099, nsv1020117, nsv1019882, nsv1023029
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)dgv6971n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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