A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3300n100



Internal ID20154916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11543..190140hg38UCSC Ensembl
chr18:11543..190140hg19UCSC Ensembl
chr18:1543..180140hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38178598
hg19178598
hg18178598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059509, nsv1059917
Samples
Known GenesMIR8078, ROCK1P1, USP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3300n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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