A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368458



Internal ID14868717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1278199..1278697hg38UCSC Ensembl
Innerchr19:1278259..1278628hg38UCSC Ensembl
Outerchr19:1278109..1278738hg38UCSC Ensembl
chr19:1278198..1278696hg19UCSC Ensembl
Innerchr19:1278258..1278627hg19UCSC Ensembl
Outerchr19:1278108..1278737hg19UCSC Ensembl
chr19:1229198..1229696hg18UCSC Ensembl
Innerchr19:1229258..1229627hg18UCSC Ensembl
Outerchr19:1229108..1229737hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8699205
SamplesNA12878
Known GenesC19orf24
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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