A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431691



Internal ID15278647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146778263..146778290hg38UCSC Ensembl
Innerchr3:146778265..146778288hg38UCSC Ensembl
Outerchr3:146778261..146778292hg38UCSC Ensembl
chr3:146496050..146496077hg19UCSC Ensembl
Innerchr3:146496052..146496075hg19UCSC Ensembl
Outerchr3:146496048..146496079hg19UCSC Ensembl
chr3:147978740..147978767hg18UCSC Ensembl
Innerchr3:147978742..147978765hg18UCSC Ensembl
Outerchr3:147978738..147978769hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864203
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431691
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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