A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6885n100



Internal ID20158501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7067578..7598490hg38UCSC Ensembl
chr8:6925100..7456012hg19UCSC Ensembl
chr8:6912510..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38530913
hg19530913
hg18530913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023625, nsv1022553, nsv1032556, nsv1024839
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6885n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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