A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7751460



Internal ID13828745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25709564..25709565hg38UCSC Ensembl
Innerchr18:25709531..25709598hg38UCSC Ensembl
Outerchr18:25709530..25709599hg38UCSC Ensembl
chr18:23289528..23289529hg19UCSC Ensembl
Innerchr18:23289495..23289562hg19UCSC Ensembl
Outerchr18:23289494..23289563hg19UCSC Ensembl
chr18:21543526..21543527hg18UCSC Ensembl
Innerchr18:21543560..21543493hg18UCSC Ensembl
Outerchr18:21543492..21543561hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305032
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7751460
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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