A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5458187



Internal ID8435590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54030525..54041463hg38UCSC Ensembl
chr20:52647064..52658002hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810939
hg1910939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663949
Supporting Variants
SamplesHG01140
Known GenesBCAS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5458187
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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