A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11864462



Internal ID5022036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34223954..34242187hg38UCSC Ensembl
Innerchr5:34224454..34241687hg38UCSC Ensembl
Outerchr5:34222954..34243187hg38UCSC Ensembl
chr5:34224059..34242292hg19UCSC Ensembl
Innerchr5:34224559..34241792hg19UCSC Ensembl
Outerchr5:34223059..34243292hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3818234
hg1918234
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604671
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11864462
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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