A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4240n100



Internal ID22790327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4950373..4990720hg38UCSC Ensembl
chr20:4931019..4971366hg19UCSC Ensembl
chr20:4879019..4919366hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3840348
hg1940348
hg1840348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061428, nsv1061971
Samples
Known GenesSLC23A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4240n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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