A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673602



Internal ID13681524
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 StatusS
Merged Variantsesv3343430
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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