A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7130n100



Internal ID19017498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19513319..19577888hg38UCSC Ensembl
chr8:19370830..19435399hg19UCSC Ensembl
chr8:19415110..19479679hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3864570
hg1964570
hg1864570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016276, nsv1018057
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7130n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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