A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731492



Internal ID13277162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116766..35116825hg38UCSC Ensembl
Innerchr19:35116795..35116796hg38UCSC Ensembl
Outerchr19:35116666..35116925hg38UCSC Ensembl
chr19:35607670..35607729hg19UCSC Ensembl
Innerchr19:35607699..35607700hg19UCSC Ensembl
Outerchr19:35607570..35607829hg19UCSC Ensembl
chr19:40299510..40299569hg18UCSC Ensembl
Innerchr19:40299540..40299539hg18UCSC Ensembl
Outerchr19:40299410..40299669hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302558
Supporting Variants
SamplesNA12878
Known GenesFXYD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731492
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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