A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6941n100



Internal ID20158557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7425003..7545918hg38UCSC Ensembl
chr8:7282525..7403440hg19UCSC Ensembl
chr8:7269935..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38120916
hg19120916
hg18120916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031528, nsv1029274, nsv1017653, nsv1015184, nsv1033368, nsv1016242, nsv1033765, nsv1034806
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6941n100
Frequency
Sample Size29084
Observed Gain14
Observed Loss31
Observed Complex0
Frequencyn/a


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