A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6949n100



Internal ID20158565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7513944..7987051hg38UCSC Ensembl
chr8:7371466..7844573hg19UCSC Ensembl
chr8:7358876..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38473108
hg19473108
hg18523108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015157, nsv1022591, nsv1016597, nsv1032270, nsv1034392, nsv1026226, nsv1033456, nsv1019266, nsv1020338, nsv1021185, nsv1031066, nsv1017216, nsv1020615, nsv1026250, nsv1015817, nsv1024716, nsv1019186, nsv1015503, nsv1025414, nsv1030423, nsv1019872, nsv1025009, nsv1023013, nsv1030438, nsv1033654, nsv1017170, nsv1028095, nsv1019425, nsv1018580, nsv1016236, nsv1026265, nsv1029338, nsv1017259, nsv1024627, nsv1033184, nsv1025567, nsv1029086, nsv1021673, nsv1015871, nsv1016469, nsv1022016, nsv1028797, nsv1022484, nsv1032718
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6949n100
Frequency
Sample Size29084
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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