A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7067n100



Internal ID22793154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12384013..12423600hg38UCSC Ensembl
chr8:12241522..12281109hg19UCSC Ensembl
chr8:12285893..12325480hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3839588
hg1939588
hg1839588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028596, nsv1021475, nsv1034018, nsv1030827
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7067n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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