A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8972902



Internal ID13306354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6521682..6521726hg38UCSC Ensembl
Innerchr18:6521703..6521703hg38UCSC Ensembl
Outerchr18:6521659..6521747hg38UCSC Ensembl
chr18:6521681..6521725hg19UCSC Ensembl
Innerchr18:6521702..6521702hg19UCSC Ensembl
Outerchr18:6521658..6521746hg19UCSC Ensembl
chr18:6511681..6511725hg18UCSC Ensembl
Innerchr18:6511702..6511702hg18UCSC Ensembl
Outerchr18:6511658..6511746hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442105
Supporting Variants
SamplesNA12004
Known GenesC18orf64
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8972902
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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