A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3317n100



Internal ID20154933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5012384..5236844hg38UCSC Ensembl
chr18:5012383..5236843hg19UCSC Ensembl
chr18:5002383..5226843hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38224461
hg19224461
hg18224461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061025, nsv1065883
Samples
Known GenesC18orf42, LINC00526
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3317n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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