A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671232



Internal ID15102028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36760894..36761230hg38UCSC Ensembl
Innerchr4:36761027..36761097hg38UCSC Ensembl
Outerchr4:36760761..36761363hg38UCSC Ensembl
chr4:36762516..36762852hg19UCSC Ensembl
Innerchr4:36762649..36762719hg19UCSC Ensembl
Outerchr4:36762383..36762985hg19UCSC Ensembl
chr4:36438911..36439247hg18UCSC Ensembl
Innerchr4:36439044..36439114hg18UCSC Ensembl
Outerchr4:36438778..36439380hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38337
hg19337
hg18337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382806
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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