A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448993



Internal ID14949256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57061869..57062388hg38UCSC Ensembl
Innerchr18:57061919..57062338hg38UCSC Ensembl
Outerchr18:57061819..57062438hg38UCSC Ensembl
chr18:54729100..54729619hg19UCSC Ensembl
Innerchr18:54729150..54729569hg19UCSC Ensembl
Outerchr18:54729050..54729669hg19UCSC Ensembl
chr18:52880098..52880617hg18UCSC Ensembl
Innerchr18:52880148..52880567hg18UCSC Ensembl
Outerchr18:52880048..52880667hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38520
hg19520
hg18520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740898
SamplesNA19240
Known GenesLINC-ROR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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