A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14734107



Internal ID5147799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54117734..54125725hg38UCSC Ensembl
Innerchr13:54117734..54125725hg38UCSC Ensembl
Outerchr13:54117564..54125884hg38UCSC Ensembl
chr13:54691869..54699860hg19UCSC Ensembl
Innerchr13:54691869..54699860hg19UCSC Ensembl
Outerchr13:54691699..54700019hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg387992
hg197992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632130
Supporting Variants
SamplesNA18577
Known GenesLINC00458
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14734107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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