A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14733017



Internal ID930574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53849793..53851322hg38UCSC Ensembl
Innerchr13:53849795..53851321hg38UCSC Ensembl
Outerchr13:53849792..53851324hg38UCSC Ensembl
chr13:54423928..54425457hg19UCSC Ensembl
Innerchr13:54423930..54425456hg19UCSC Ensembl
Outerchr13:54423927..54425459hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632126
Supporting Variants
SamplesHG00556
Known GenesLINC00558
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14733017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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