A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393903



Internal ID15240868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39800890..39803288hg38UCSC Ensembl
Innerchr18:39801890..39802288hg38UCSC Ensembl
Outerchr18:39799890..39804288hg38UCSC Ensembl
chr18:37380854..37383252hg19UCSC Ensembl
Innerchr18:37381854..37382252hg19UCSC Ensembl
Outerchr18:37379854..37384252hg19UCSC Ensembl
chr18:35634852..35637250hg18UCSC Ensembl
Innerchr18:35635852..35636250hg18UCSC Ensembl
Outerchr18:35633852..35638250hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1884e59
Supporting Variantsessv8691199
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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