A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14789394



Internal ID5278593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70675556..70681471hg38UCSC Ensembl
Innerchr13:70675556..70681471hg38UCSC Ensembl
Outerchr13:70675056..70681971hg38UCSC Ensembl
chr13:71249688..71255603hg19UCSC Ensembl
Innerchr13:71249688..71255603hg19UCSC Ensembl
Outerchr13:71249188..71256103hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg385916
hg195916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632658
Supporting Variants
SamplesNA18645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14789394
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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