A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343430



Internal ID15190415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5082709..5082755hg38UCSC Ensembl
Innerchr18:5082718..5082744hg38UCSC Ensembl
Outerchr18:5082674..5082790hg38UCSC Ensembl
chr18:5082708..5082754hg19UCSC Ensembl
Innerchr18:5082717..5082743hg19UCSC Ensembl
Outerchr18:5082673..5082789hg19UCSC Ensembl
chr18:5072708..5072754hg18UCSC Ensembl
Innerchr18:5072743..5072717hg18UCSC Ensembl
Outerchr18:5072673..5072789hg18UCSC 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 Variantsessv8673604, essv8673602, essv8673603
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343430
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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