A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864232



Internal ID13552697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193242108..193242135hg38UCSC Ensembl
Innerchr3:193242110..193242133hg38UCSC Ensembl
Outerchr3:193242106..193242137hg38UCSC Ensembl
chr3:192959897..192959924hg19UCSC Ensembl
Innerchr3:192959899..192959922hg19UCSC Ensembl
Outerchr3:192959895..192959926hg19UCSC Ensembl
chr3:194442591..194442618hg18UCSC Ensembl
Innerchr3:194442593..194442616hg18UCSC Ensembl
Outerchr3:194442589..194442620hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377368
Supporting Variants
SamplesNA18522
Known GenesHRASLS, MGC2889
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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