A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710956



Internal ID5272599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45541757..45555781hg38UCSC Ensembl
Innerchr13:45541774..45555764hg38UCSC Ensembl
Outerchr13:45541740..45555798hg38UCSC Ensembl
chr13:46115892..46129916hg19UCSC Ensembl
Innerchr13:46115909..46129899hg19UCSC Ensembl
Outerchr13:46115875..46129933hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3814025
hg1914025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631959
Supporting Variants
SamplesNA18642
Known GenesFAM194B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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