A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14756027



Internal ID2970481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59219833..59226364hg38UCSC Ensembl
Innerchr13:59219837..59226360hg38UCSC Ensembl
Outerchr13:59219829..59226368hg38UCSC Ensembl
chr13:59793967..59800498hg19UCSC Ensembl
Innerchr13:59793971..59800494hg19UCSC Ensembl
Outerchr13:59793963..59800502hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632282
Supporting Variants
SamplesHG02623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14756027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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