A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337337



Internal ID14837607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60052..86250hg38UCSC Ensembl
Innerchr19:61052..85250hg38UCSC Ensembl
Outerchr19:60001..87250hg38UCSC Ensembl
chr19:60052..86250hg19UCSC Ensembl
Innerchr19:61052..85250hg19UCSC Ensembl
Outerchr19:60001..87250hg19UCSC Ensembl
chr19:11052..37250hg18UCSC Ensembl
Innerchr19:12052..36250hg18UCSC Ensembl
Outerchr19:10052..38250hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3826199
hg1926199
hg1826199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1957e59
Supporting Variantsessv8691400
SamplesNA19240
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337337
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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