A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5482933



Internal ID8460336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44646459..44649665hg38UCSC Ensembl
chr20:43275100..43278306hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383207
hg193207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668236
Supporting Variants
SamplesNA19916
Known GenesADA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5482933
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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