A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11937030



Internal ID5463701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67724824..67737832hg38UCSC Ensembl
Innerchr5:67724824..67737832hg38UCSC Ensembl
Outerchr5:67724324..67738332hg38UCSC Ensembl
chr5:67020652..67033660hg19UCSC Ensembl
Innerchr5:67020652..67033660hg19UCSC Ensembl
Outerchr5:67020152..67034160hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3813009
hg1913009
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605350
Supporting Variants
SamplesNA18970
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11937030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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