A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737782



Internal ID12913098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98892827..98895843hg38UCSC Ensembl
Outerchr4:98892627..98896043hg38UCSC Ensembl
Innerchr4:99813978..99816994hg19UCSC Ensembl
Outerchr4:99813778..99817194hg19UCSC Ensembl
Innerchr4:100033001..100036017hg18UCSC Ensembl
Outerchr4:100032801..100036217hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383417
hg193417
hg183417
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303064
Supporting Variants
SamplesNA11994
Known GenesEIF4E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737782
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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