A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6906n100



Internal ID20158522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7312955..7545918hg38UCSC Ensembl
chr8:7170477..7403440hg19UCSC Ensembl
chr8:7157887..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38232964
hg19232964
hg18232964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019315, nsv1024275, nsv1028336, nsv1029924, nsv1015845, nsv1025679, nsv1033977, nsv1022736, nsv1021514, nsv1021760, nsv1020264
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6906n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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