A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822810



Internal ID6506217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85219561..85253818hg38UCSC Ensembl
chr13:85793696..85827953hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3834258
hg1934258
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632971
Supporting Variants
SamplesNA20535
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822810
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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