A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14735000



Internal ID5509001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55048197..55050932hg38UCSC Ensembl
Innerchr13:55048197..55050932hg38UCSC Ensembl
Outerchr13:55047948..55051180hg38UCSC Ensembl
chr13:55622332..55625067hg19UCSC Ensembl
Innerchr13:55622332..55625067hg19UCSC Ensembl
Outerchr13:55622083..55625315hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382736
hg192736
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632145
Supporting Variants
SamplesNA18988
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14735000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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