A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691185



Internal ID15061656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23460390..23461488hg38UCSC Ensembl
Innerchr18:23460488..23461390hg38UCSC Ensembl
Outerchr18:23459390..23462488hg38UCSC Ensembl
chr18:21040354..21041452hg19UCSC Ensembl
Innerchr18:21040452..21041354hg19UCSC Ensembl
Outerchr18:21039354..21042452hg19UCSC Ensembl
chr18:19294352..19295450hg18UCSC Ensembl
Innerchr18:19295352..19294450hg18UCSC Ensembl
Outerchr18:19293352..19296450hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337127
Supporting Variants
SamplesNA19239
Known GenesRIOK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691185
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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