A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732932



Internal ID5337383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53660630..53666118hg38UCSC Ensembl
Innerchr13:53660630..53666118hg38UCSC Ensembl
Outerchr13:53660630..53666118hg38UCSC Ensembl
chr13:54234765..54240253hg19UCSC Ensembl
Innerchr13:54234765..54240253hg19UCSC Ensembl
Outerchr13:54234765..54240253hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385489
hg195489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632119
Supporting Variants
SamplesNA18874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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