A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11937032



Internal ID5965625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67850549..67855832hg38UCSC Ensembl
Innerchr5:67851049..67855332hg38UCSC Ensembl
Outerchr5:67849549..67856832hg38UCSC Ensembl
chr5:67146377..67151660hg19UCSC Ensembl
Innerchr5:67146877..67151160hg19UCSC Ensembl
Outerchr5:67145377..67152660hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg385284
hg195284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605352
Supporting Variants
SamplesNA19378
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11937032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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