A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6980n100



Internal ID20158596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7894514..8160504hg38UCSC Ensembl
chr8:7752036..8018026hg19UCSC Ensembl
chr8:7789446..8055436hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38265991
hg19265991
hg18265991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020751, nsv1021823, nsv1029744, nsv1027133
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, MIR548I3, 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)dgv6980n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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