A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360803



Internal ID15207782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49045884..49046782hg38UCSC Ensembl
Innerchr18:49045883..49046783hg38UCSC Ensembl
Outerchr18:49044884..49047782hg38UCSC Ensembl
chr18:46572254..46573152hg19UCSC Ensembl
Innerchr18:46572253..46573153hg19UCSC Ensembl
Outerchr18:46571254..46574152hg19UCSC Ensembl
chr18:44826252..44827150hg18UCSC Ensembl
Innerchr18:44827151..44826251hg18UCSC Ensembl
Outerchr18:44825252..44828150hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691226
SamplesNA19240
Known GenesDYM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360803
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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