A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11473841



Internal ID4316066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:66483976..66487413hg38UCSC Ensembl
Innerchr4:66483987..66487403hg38UCSC Ensembl
Outerchr4:66483966..66487424hg38UCSC Ensembl
chr4:67349694..67353131hg19UCSC Ensembl
Innerchr4:67349705..67353121hg19UCSC Ensembl
Outerchr4:67349684..67353142hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383438
hg193438
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600818
Supporting Variants
SamplesHG03867
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11473841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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