A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4246n100



Internal ID22790333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12748753..12800886hg38UCSC Ensembl
chr20:12729400..12781534hg19UCSC Ensembl
chr20:12677400..12729534hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3852134
hg1952135
hg1852135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066818, nsv1065145
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4246n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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