A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731016



Internal ID13722614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9809071..9809266hg38UCSC Ensembl
Innerchr18:9809168..9809169hg38UCSC Ensembl
Outerchr18:9808971..9809366hg38UCSC Ensembl
chr18:9809068..9809263hg19UCSC Ensembl
Innerchr18:9809165..9809166hg19UCSC Ensembl
Outerchr18:9808968..9809363hg19UCSC Ensembl
chr18:9799068..9799263hg18UCSC Ensembl
Innerchr18:9799166..9799165hg18UCSC Ensembl
Outerchr18:9798968..9799363hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38196
hg19196
hg18196
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302576
Supporting Variants
SamplesNA12892
Known GenesRAB31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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