A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7033n100



Internal ID20158649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12305218..12649550hg38UCSC Ensembl
chr8:12162727..12507059hg19UCSC Ensembl
chr8:12207096..12551430hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38344333
hg19344333
hg18344335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018293, nsv1024732, nsv1018762, nsv1017919
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7033n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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