A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973457



Internal ID13865544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47706394..47706419hg38UCSC Ensembl
Innerchr18:47706394..47706419hg38UCSC Ensembl
Outerchr18:47706369..47706444hg38UCSC Ensembl
chr18:45232765..45232790hg19UCSC Ensembl
Innerchr18:45232765..45232790hg19UCSC Ensembl
Outerchr18:45232740..45232815hg19UCSC Ensembl
chr18:43486763..43486788hg18UCSC Ensembl
Innerchr18:43486788..43486763hg18UCSC Ensembl
Outerchr18:43486738..43486813hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3406175
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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