A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694465



Internal ID15044645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53781828..53783326hg38UCSC Ensembl
Innerchr4:53782326..53782828hg38UCSC Ensembl
Outerchr4:53780828..53784326hg38UCSC Ensembl
chr4:54647995..54649493hg19UCSC Ensembl
Innerchr4:54648493..54648995hg19UCSC Ensembl
Outerchr4:54646995..54650493hg19UCSC Ensembl
chr4:54342752..54344250hg18UCSC Ensembl
Innerchr4:54343752..54343250hg18UCSC Ensembl
Outerchr4:54341752..54345250hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3379351
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694465
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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