A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14752268



Internal ID3324380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58653086..58660880hg38UCSC Ensembl
Innerchr13:58653086..58660880hg38UCSC Ensembl
Outerchr13:58652854..58661122hg38UCSC Ensembl
chr13:59227220..59235014hg19UCSC Ensembl
Innerchr13:59227220..59235014hg19UCSC Ensembl
Outerchr13:59226988..59235256hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg387795
hg197795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632270
Supporting Variants
SamplesHG02971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14752268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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