A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740913



Internal ID15084944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47419534..47419576hg38UCSC Ensembl
Innerchr19:47419533..47419577hg38UCSC Ensembl
Outerchr19:47419484..47419626hg38UCSC Ensembl
chr19:47922791..47922833hg19UCSC Ensembl
Innerchr19:47922790..47922834hg19UCSC Ensembl
Outerchr19:47922741..47922883hg19UCSC Ensembl
chr19:52614603..52614645hg18UCSC Ensembl
Innerchr19:52614646..52614602hg18UCSC Ensembl
Outerchr19:52614553..52614695hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38479
hg19479
hg18479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371880
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740913
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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