A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732598



Internal ID4734414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53044224..53059579hg38UCSC Ensembl
Innerchr13:53044724..53059079hg38UCSC Ensembl
Outerchr13:53043224..53060579hg38UCSC Ensembl
chr13:53618359..53633714hg19UCSC Ensembl
Innerchr13:53618859..53633214hg19UCSC Ensembl
Outerchr13:53617359..53634714hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3815356
hg1915356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632112
Supporting Variants
SamplesHG03066
Known GenesOLFM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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