A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6939n100



Internal ID20158555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7414647..7545918hg38UCSC Ensembl
chr8:7272169..7403440hg19UCSC Ensembl
chr8:7259579..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38131272
hg19131272
hg18131272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020867, nsv1034647, nsv1023065, nsv1031623, nsv1028306, nsv1028230, nsv1018025, nsv1018480
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)dgv6939n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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