A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691194



Internal ID15061683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35931291..35931589hg38UCSC Ensembl
Innerchr18:35931290..35931590hg38UCSC Ensembl
Outerchr18:35930291..35932589hg38UCSC Ensembl
chr18:33511254..33511552hg19UCSC Ensembl
Innerchr18:33511253..33511553hg19UCSC Ensembl
Outerchr18:33510254..33512552hg19UCSC Ensembl
chr18:31765252..31765550hg18UCSC Ensembl
Innerchr18:31765551..31765251hg18UCSC Ensembl
Outerchr18:31764252..31766550hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392629
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691194
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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