A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6908n100



Internal ID20158524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7312955..7788793hg38UCSC Ensembl
chr8:7170477..7646315hg19UCSC Ensembl
chr8:7157887..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38475839
hg19475839
hg18525839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021262, nsv1034090, nsv1028270, nsv1028145, nsv1032279, nsv1019128, nsv1018189, nsv1019999, nsv1020097, nsv1020721, nsv1019496, nsv1025714, nsv1016547, nsv1029063, nsv1033171, nsv1029741, nsv1032215, nsv1021122
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, 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)dgv6908n100
Frequency
Sample Size29084
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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