A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5544722



Internal ID8522125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45720211..45750898hg38UCSC Ensembl
chr20:44348850..44379537hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3830688
hg1930688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678145
Supporting Variants
SamplesNA12275
Known GenesSPINT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5544722
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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