A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691207



Internal ID15061766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46397591..46398689hg38UCSC Ensembl
Innerchr18:46397689..46398591hg38UCSC Ensembl
Outerchr18:46396591..46399689hg38UCSC Ensembl
chr18:43977554..43978652hg19UCSC Ensembl
Innerchr18:43977652..43978554hg19UCSC Ensembl
Outerchr18:43976554..43979652hg19UCSC Ensembl
chr18:42231552..42232650hg18UCSC Ensembl
Innerchr18:42232552..42231650hg18UCSC Ensembl
Outerchr18:42230552..42233650hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419380
Supporting Variants
SamplesNA19239
Known GenesRNF165
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691207
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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