A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348082



Internal ID15195064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47302285..47302304hg38UCSC Ensembl
Innerchr18:47302281..47302308hg38UCSC Ensembl
Outerchr18:47302262..47302327hg38UCSC Ensembl
chr18:44828656..44828675hg19UCSC Ensembl
Innerchr18:44828652..44828679hg19UCSC Ensembl
Outerchr18:44828633..44828698hg19UCSC Ensembl
chr18:43082654..43082673hg18UCSC Ensembl
Innerchr18:43082677..43082650hg18UCSC Ensembl
Outerchr18:43082631..43082696hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9676213
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348082
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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