A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14733016



Internal ID5152738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53784605..53848617hg38UCSC Ensembl
chr13:54358740..54422752hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864013
hg1964013
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632125
Supporting Variants
SamplesNA18582
Known GenesLINC00558
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14733016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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