A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691258



Internal ID15028542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63091139..63092537hg38UCSC Ensembl
Innerchr18:63091537..63092139hg38UCSC Ensembl
Outerchr18:63090139..63093537hg38UCSC Ensembl
chr18:60758372..60759770hg19UCSC Ensembl
Innerchr18:60758770..60759372hg19UCSC Ensembl
Outerchr18:60757372..60760770hg19UCSC Ensembl
chr18:58909352..58910750hg18UCSC Ensembl
Innerchr18:58910352..58909750hg18UCSC Ensembl
Outerchr18:58908352..58911750hg18UCSC 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 Variantsesv3430207
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691258
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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