A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431914



Internal ID15278870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58485985..58488283hg38UCSC Ensembl
Innerchr3:58486985..58487283hg38UCSC Ensembl
Outerchr3:58484985..58489283hg38UCSC Ensembl
chr3:58471712..58474010hg19UCSC Ensembl
Innerchr3:58472712..58473010hg19UCSC Ensembl
Outerchr3:58470712..58475010hg19UCSC Ensembl
chr3:58446752..58449050hg18UCSC Ensembl
Innerchr3:58447752..58448050hg18UCSC Ensembl
Outerchr3:58445752..58450050hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694108
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431914
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