A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363246



Internal ID14863507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5608339..5608358hg38UCSC Ensembl
Innerchr18:5608307..5608390hg38UCSC Ensembl
Outerchr18:5608288..5608409hg38UCSC Ensembl
chr18:5608338..5608357hg19UCSC Ensembl
Innerchr18:5608306..5608389hg19UCSC Ensembl
Outerchr18:5608287..5608408hg19UCSC Ensembl
chr18:5598338..5598357hg18UCSC Ensembl
Innerchr18:5598389..5598306hg18UCSC Ensembl
Outerchr18:5598287..5598408hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866006
SamplesNA18871
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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