A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394798



Internal ID14895076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11803653..11804251hg38UCSC Ensembl
Innerchr18:11803652..11804252hg38UCSC Ensembl
Outerchr18:11802653..11805251hg38UCSC Ensembl
chr18:11803652..11804250hg19UCSC Ensembl
Innerchr18:11803651..11804251hg19UCSC Ensembl
Outerchr18:11802652..11805250hg19UCSC Ensembl
chr18:11793652..11794250hg18UCSC Ensembl
Innerchr18:11794251..11793651hg18UCSC Ensembl
Outerchr18:11792652..11795250hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691102
SamplesNA19239
Known GenesGNAL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394798
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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