A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374190



Internal ID15221165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47241455..47242753hg38UCSC Ensembl
Innerchr19:47241753..47242455hg38UCSC Ensembl
Outerchr19:47240455..47243753hg38UCSC Ensembl
chr19:47744712..47746010hg19UCSC Ensembl
Innerchr19:47745010..47745712hg19UCSC Ensembl
Outerchr19:47743712..47747010hg19UCSC Ensembl
chr19:52436552..52437850hg18UCSC Ensembl
Innerchr19:52437552..52436850hg18UCSC Ensembl
Outerchr19:52435552..52438850hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691574
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374190
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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