A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324992



Internal ID15171972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29083262..29083272hg38UCSC Ensembl
Innerchr19:29083242..29083292hg38UCSC Ensembl
Outerchr19:29083232..29083302hg38UCSC Ensembl
chr19:29574169..29574179hg19UCSC Ensembl
Innerchr19:29574149..29574199hg19UCSC Ensembl
Outerchr19:29574139..29574209hg19UCSC Ensembl
chr19:34266009..34266019hg18UCSC Ensembl
Innerchr19:34266039..34265989hg18UCSC Ensembl
Outerchr19:34265979..34266049hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866095
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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