A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11971220



Internal ID5973163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:89276912..89283090hg38UCSC Ensembl
Innerchr5:89276912..89283090hg38UCSC Ensembl
Outerchr5:89276736..89283291hg38UCSC Ensembl
chr5:88572729..88578907hg19UCSC Ensembl
Innerchr5:88572729..88578907hg19UCSC Ensembl
Outerchr5:88572553..88579108hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386179
hg196179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605745
Supporting Variants
SamplesNA19383
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11971220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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