A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6910n100



Internal ID20158526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7312955..8008628hg38UCSC Ensembl
chr8:7170477..7866150hg19UCSC Ensembl
chr8:7157887..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38695674
hg19695674
hg18745674
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018558, nsv1025383, nsv1024322, nsv1018633, nsv1023155, nsv1017757, nsv1033403, nsv1019552, nsv1032804, nsv1031605, nsv1022222, nsv1031700, nsv1018166, nsv1022171, nsv1032707, nsv1031326, nsv1029558, nsv1019687, nsv1016105, nsv1019008, nsv1026880, nsv1018774, nsv1026106, nsv1028415, nsv1034397, nsv1015703, nsv1032211, nsv1025256, nsv1033633, nsv1018706, nsv1033930, nsv1023178, nsv1020634, nsv1021623, nsv1016587
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, 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)dgv6910n100
Frequency
Sample Size29084
Observed Gain287
Observed Loss140
Observed Complex0
Frequencyn/a


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