A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6927n100



Internal ID20158543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7357077..7838727hg38UCSC Ensembl
chr8:7214599..7696249hg19UCSC Ensembl
chr8:7202009..7733659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38481651
hg19481651
hg18531651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027595, nsv1034939, nsv1025924, nsv1017654, nsv1029938, nsv1020243, nsv1019681, nsv1015510, nsv1019351, nsv1031184, nsv1023796, nsv1030219, nsv1024383, nsv1027159, nsv1030070, nsv1021671, nsv1015416, nsv1031305, nsv1029907
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6927n100
Frequency
Sample Size29084
Observed Gain47
Observed Loss46
Observed Complex0
Frequencyn/a


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