A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305433



Internal ID15152381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57161446..57161447hg38UCSC Ensembl
Innerchr18:57161372..57161521hg38UCSC Ensembl
Outerchr18:57161371..57161522hg38UCSC Ensembl
chr18:54828677..54828678hg19UCSC Ensembl
Innerchr18:54828603..54828752hg19UCSC Ensembl
Outerchr18:54828602..54828753hg19UCSC Ensembl
chr18:52979675..52979676hg18UCSC Ensembl
Innerchr18:52979750..52979601hg18UCSC Ensembl
Outerchr18:52979600..52979751hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7757444, essv7751180
SamplesNA18561, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305433
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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