A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6945n100



Internal ID20158561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7465919..7545918hg38UCSC Ensembl
chr8:7323441..7403440hg19UCSC Ensembl
chr8:7310851..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880000
hg1980000
hg1880000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024252, nsv1026192, nsv1025024, nsv1030307, nsv1020012, nsv1022131, nsv1032551, nsv1032850, nsv1021624, nsv1033353, nsv1026156, nsv1019957, nsv1024356
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6945n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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