A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6932n100



Internal ID20158548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7392846..7545918hg38UCSC Ensembl
chr8:7250368..7403440hg19UCSC Ensembl
chr8:7237778..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38153073
hg19153073
hg18153073
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026798, nsv1030493, nsv1032816, nsv1017018, nsv1033559, nsv1034328, nsv1016382, nsv1019537, nsv1017786, nsv1026299
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6932n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss25
Observed Complex0
Frequencyn/a


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