A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425099



Internal ID15272056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:643121..643121hg38UCSC Ensembl
Innerchr19:643120..643122hg38UCSC Ensembl
Outerchr19:643081..643141hg38UCSC Ensembl
chr19:643121..643121hg19UCSC Ensembl
Innerchr19:643120..643122hg19UCSC Ensembl
Outerchr19:643081..643141hg19UCSC Ensembl
chr19:594121..594121hg18UCSC Ensembl
Innerchr19:594122..594120hg18UCSC Ensembl
Outerchr19:594081..594141hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8643246
Samples
Known GenesFGF22
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425099
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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