A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691398



Internal ID15029043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60001..86350hg38UCSC Ensembl
Innerchr19:60952..85350hg38UCSC Ensembl
Outerchr19:60001..87350hg38UCSC Ensembl
chr19:60001..86350hg19UCSC Ensembl
Innerchr19:60952..85350hg19UCSC Ensembl
Outerchr19:60001..87350hg19UCSC Ensembl
chr19:10952..37350hg18UCSC Ensembl
Innerchr19:11952..36350hg18UCSC Ensembl
Outerchr19:9952..38350hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3826350
hg1926350
hg1826399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3383845
Supporting Variants
SamplesNA19238
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691398
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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