A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033661



Internal ID4654412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119344207..119349515hg38UCSC Ensembl
Innerchr5:119344220..119349502hg38UCSC Ensembl
Outerchr5:119344194..119349528hg38UCSC Ensembl
chr5:118679902..118685210hg19UCSC Ensembl
Innerchr5:118679915..118685197hg19UCSC Ensembl
Outerchr5:118679889..118685223hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606483
Supporting Variants
SamplesHG04183
Known GenesTNFAIP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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