A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6894n100



Internal ID19017262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7137583..7514711hg38UCSC Ensembl
chr8:6995105..7372233hg19UCSC Ensembl
chr8:6982515..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38377129
hg19377129
hg18377129
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030381, nsv1015420
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, LINC00965, 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)dgv6894n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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