A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6890n100



Internal ID20158506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7102299..8283909hg38UCSC Ensembl
chr8:6959821..8141431hg19UCSC Ensembl
chr8:6947231..8178841hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381181611
hg191181611
hg181231611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029612, nsv1016731, nsv1034593, nsv1026126
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6890n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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