A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694093



Internal ID15041263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50119915..50122913hg38UCSC Ensembl
Innerchr3:50120915..50121913hg38UCSC Ensembl
Outerchr3:50118915..50123913hg38UCSC Ensembl
chr3:50157348..50160346hg19UCSC Ensembl
Innerchr3:50158348..50159346hg19UCSC Ensembl
Outerchr3:50156348..50161346hg19UCSC Ensembl
chr3:50132352..50135350hg18UCSC Ensembl
Innerchr3:50133352..50134350hg18UCSC Ensembl
Outerchr3:50131352..50136350hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3386929
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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