A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7059n100



Internal ID22793146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12376233..12423600hg38UCSC Ensembl
chr8:12233742..12281109hg19UCSC Ensembl
chr8:12278113..12325480hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847368
hg1947368
hg1847368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019225, nsv1032932, nsv1034594, nsv1028849
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7059n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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