A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450782



Internal ID15297730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70125919..70125939hg38UCSC Ensembl
Innerchr3:70125918..70125940hg38UCSC Ensembl
Outerchr3:70125869..70125989hg38UCSC Ensembl
chr3:70175070..70175090hg19UCSC Ensembl
Innerchr3:70175069..70175091hg19UCSC Ensembl
Outerchr3:70175020..70175140hg19UCSC Ensembl
chr3:70257760..70257780hg18UCSC Ensembl
Innerchr3:70257781..70257759hg18UCSC Ensembl
Outerchr3:70257710..70257830hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38461
hg19461
hg18461
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741104
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450782
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer