A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302558



Internal ID14802819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116765..35116825hg38UCSC Ensembl
Innerchr19:35116795..35116795hg38UCSC Ensembl
Outerchr19:35116665..35116925hg38UCSC Ensembl
chr19:35607669..35607729hg19UCSC Ensembl
Innerchr19:35607699..35607699hg19UCSC Ensembl
Outerchr19:35607569..35607829hg19UCSC Ensembl
chr19:40299509..40299569hg18UCSC Ensembl
Innerchr19:40299539..40299539hg18UCSC Ensembl
Outerchr19:40299409..40299669hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731492
SamplesNA12878
Known GenesFXYD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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