A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430839



Internal ID14931109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47336420..47336424hg38UCSC Ensembl
Innerchr19:47336419..47336425hg38UCSC Ensembl
Outerchr19:47336415..47336429hg38UCSC Ensembl
chr19:47839677..47839681hg19UCSC Ensembl
Innerchr19:47839676..47839682hg19UCSC Ensembl
Outerchr19:47839672..47839686hg19UCSC Ensembl
chr19:52531517..52531521hg18UCSC Ensembl
Innerchr19:52531522..52531516hg18UCSC Ensembl
Outerchr19:52531512..52531526hg18UCSC Ensembl
Cytoband19q13.32
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 Variantsessv7866116
SamplesNA11992
Known GenesC5AR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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