A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14820080



Internal ID6913772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81963425..82013518hg38UCSC Ensembl
Innerchr13:81963425..82013518hg38UCSC Ensembl
Outerchr13:81962925..82014018hg38UCSC Ensembl
chr13:82537560..82587653hg19UCSC Ensembl
Innerchr13:82537560..82587653hg19UCSC Ensembl
Outerchr13:82537060..82588153hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3850094
hg1950094
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632879
Supporting Variants
SamplesNA21115
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14820080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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