A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365382



Internal ID15212359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141591805..141591849hg38UCSC Ensembl
Innerchr3:141591805..141591846hg38UCSC Ensembl
Outerchr3:141591761..141591890hg38UCSC Ensembl
chr3:141310647..141310691hg19UCSC Ensembl
Innerchr3:141310647..141310688hg19UCSC Ensembl
Outerchr3:141310603..141310732hg19UCSC Ensembl
chr3:142793337..142793381hg18UCSC Ensembl
Innerchr3:142793378..142793337hg18UCSC Ensembl
Outerchr3:142793293..142793422hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915616, essv8915615
SamplesNA18858, NA19093
Known GenesRASA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365382
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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