A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377368



Internal ID14877634
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 StatusM
Merged Variants
Supporting Variantsessv7864232, essv7864230
SamplesNA11992, NA18522
Known GenesHRASLS, MGC2889
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377368
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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