A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691260



Internal ID15062006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63091239..63092637hg38UCSC Ensembl
Innerchr18:63091637..63092239hg38UCSC Ensembl
Outerchr18:63090239..63093637hg38UCSC Ensembl
chr18:60758472..60759870hg19UCSC Ensembl
Innerchr18:60758870..60759472hg19UCSC Ensembl
Outerchr18:60757472..60760870hg19UCSC Ensembl
chr18:58909452..58910850hg18UCSC Ensembl
Innerchr18:58910452..58909850hg18UCSC Ensembl
Outerchr18:58908452..58911850hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349673
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691260
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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