A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384751



Internal ID15231721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172851951..172851960hg38UCSC Ensembl
Innerchr3:172851953..172851958hg38UCSC Ensembl
Outerchr3:172851949..172851962hg38UCSC Ensembl
chr3:172569741..172569750hg19UCSC Ensembl
Innerchr3:172569743..172569748hg19UCSC Ensembl
Outerchr3:172569739..172569752hg19UCSC Ensembl
chr3:174052435..174052444hg18UCSC Ensembl
Innerchr3:174052437..174052442hg18UCSC Ensembl
Outerchr3:174052433..174052446hg18UCSC Ensembl
Cytoband3q26.31
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 Variantsessv7864221
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384751
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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