A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741665



Internal ID13791189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47706397..47706398hg38UCSC Ensembl
Innerchr18:47706361..47706434hg38UCSC Ensembl
Outerchr18:47706360..47706435hg38UCSC Ensembl
chr18:45232768..45232769hg19UCSC Ensembl
Innerchr18:45232732..45232805hg19UCSC Ensembl
Outerchr18:45232731..45232806hg19UCSC Ensembl
chr18:43486766..43486767hg18UCSC Ensembl
Innerchr18:43486803..43486730hg18UCSC Ensembl
Outerchr18:43486729..43486804hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305296
Supporting Variants
SamplesNA18502
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741665
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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