A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14784268



Internal ID1801561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68913431..68914225hg38UCSC Ensembl
Innerchr13:68913431..68914225hg38UCSC Ensembl
Outerchr13:68913184..68914463hg38UCSC Ensembl
chr13:69487563..69488357hg19UCSC Ensembl
Innerchr13:69487563..69488357hg19UCSC Ensembl
Outerchr13:69487316..69488595hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632608
Supporting Variants
SamplesHG01678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14784268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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