A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381956



Internal ID14882232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116793..35116851hg38UCSC Ensembl
Innerchr19:35116814..35116828hg38UCSC Ensembl
Outerchr19:35116770..35116872hg38UCSC Ensembl
chr19:35607697..35607755hg19UCSC Ensembl
Innerchr19:35607718..35607732hg19UCSC Ensembl
Outerchr19:35607674..35607776hg19UCSC Ensembl
chr19:40299537..40299595hg18UCSC Ensembl
Innerchr19:40299558..40299572hg18UCSC Ensembl
Outerchr19:40299514..40299616hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670815
SamplesNA12878
Known GenesFXYD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381956
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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