A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376119



Internal ID15223092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1825427..1827325hg38UCSC Ensembl
Innerchr4:1826325..1826427hg38UCSC Ensembl
Outerchr4:1824427..1828325hg38UCSC Ensembl
chr4:1827154..1829052hg19UCSC Ensembl
Innerchr4:1828052..1828154hg19UCSC Ensembl
Outerchr4:1826154..1830052hg19UCSC Ensembl
chr4:1796952..1798850hg18UCSC Ensembl
Innerchr4:1797952..1797850hg18UCSC Ensembl
Outerchr4:1795952..1799850hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694273
SamplesNA19239
Known GenesLETM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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