A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6348302



Internal ID9304824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53531266..53539815hg38UCSC Ensembl
chr13:54105401..54113950hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388550
hg198550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674633
Supporting Variants
SamplesNA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6348302
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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