A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6882n100



Internal ID20158498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6975834..7987051hg38UCSC Ensembl
chr8:6833356..7844573hg19UCSC Ensembl
chr8:6820766..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381011218
hg191011218
hg181061218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030845, nsv1024678, nsv1024127, nsv1018704, nsv1017046, nsv1027999, nsv1021612, nsv1017546, nsv1028409, nsv1020483, nsv1017423, nsv1022167, nsv1032768, nsv1023635, nsv1018664, nsv1027505, nsv1024626, nsv1030804, nsv1025712, nsv1031644, nsv1016219, nsv1017827, nsv1018227, nsv1022721, nsv1023663, nsv1031433, nsv1019874, nsv1031341, nsv1029843, nsv1033870, nsv1017553, nsv1028748, nsv1016407, nsv1021363
Samples
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6882n100
Frequency
Sample Size29084
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer