A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6969n100



Internal ID20158585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7872528..7952372hg38UCSC Ensembl
chr8:7730050..7809894hg19UCSC Ensembl
chr8:7767460..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879845
hg1979845
hg1879845
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022200, nsv1021425, nsv1029989
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)dgv6969n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss9
Observed Complex0
Frequencyn/a


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