A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694274



Internal ID15042939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1852027..1853125hg38UCSC Ensembl
Innerchr4:1852125..1853027hg38UCSC Ensembl
Outerchr4:1851027..1854125hg38UCSC Ensembl
chr4:1853754..1854852hg19UCSC Ensembl
Innerchr4:1853852..1854754hg19UCSC Ensembl
Outerchr4:1852754..1855852hg19UCSC Ensembl
chr4:1823552..1824650hg18UCSC Ensembl
Innerchr4:1824552..1823650hg18UCSC Ensembl
Outerchr4:1822552..1825650hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396290
Supporting Variants
SamplesNA19239
Known GenesLETM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694274
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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