A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6926n100



Internal ID20158542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7357077..7788793hg38UCSC Ensembl
chr8:7214599..7646315hg19UCSC Ensembl
chr8:7202009..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38431717
hg19431717
hg18481717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016209, nsv1023574, nsv1024394, nsv1033391, nsv1032374, nsv1025693, nsv1019914, nsv1022845, nsv1018234, nsv1027761, nsv1023422, nsv1023292, nsv1022384, nsv1034726, nsv1017712, nsv1033856, nsv1032682, nsv1017639, nsv1026316, nsv1017123
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)dgv6926n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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