A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303000



Internal ID14803262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46642920..46683977hg38UCSC Ensembl
Innerchr18:46643020..46683877hg38UCSC Ensembl
Outerchr18:46642820..46684077hg38UCSC Ensembl
chr18:44222883..44263940hg19UCSC Ensembl
Innerchr18:44222983..44263840hg19UCSC Ensembl
Outerchr18:44222783..44264040hg19UCSC Ensembl
chr18:42476881..42517938hg18UCSC Ensembl
Innerchr18:42476981..42517838hg18UCSC Ensembl
Outerchr18:42476781..42518038hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3841058
hg1941058
hg1841058
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735722
SamplesNA19147
Known GenesLOXHD1, ST8SIA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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