A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14748060



Internal ID3471632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:57790693..57798070hg38UCSC Ensembl
Innerchr13:57791193..57797570hg38UCSC Ensembl
Outerchr13:57789693..57799070hg38UCSC Ensembl
chr13:58364827..58372204hg19UCSC Ensembl
Innerchr13:58365327..58371704hg19UCSC Ensembl
Outerchr13:58363827..58373204hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg387378
hg197378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632248
Supporting Variants
SamplesHG03088
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14748060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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