A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7049n100



Internal ID22793136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12470001hg38UCSC Ensembl
chr8:12232269..12327510hg19UCSC Ensembl
chr8:12276640..12371881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3895242
hg1995242
hg1895242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032381, nsv1028632, nsv1029625, nsv1031574, nsv1027671, nsv1021117
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7049n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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