A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3303n100



Internal ID20154919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:219990..290812hg38UCSC Ensembl
chr18:219990..290812hg19UCSC Ensembl
chr18:209990..280812hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3870823
hg1970823
hg1870823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067432, nsv1056707
Samples
Known GenesTHOC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3303n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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