A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4218n100



Internal ID22790305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:80652..96321hg38UCSC Ensembl
chr20:61293..76962hg19UCSC Ensembl
chr20:9293..24962hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3815670
hg1915670
hg1815670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067152, nsv1066640, nsv1059149, nsv1060270
Samples
Known GenesDEFB125
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4218n100
Frequency
Sample Size11257
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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