A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678145



Internal ID9944250
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5544722, essv6381291, essv6066893, essv6451318, essv6195725, essv5875293
SamplesHG00261, HG00251, NA12275, HG00119, HG00136, HG00329
Known GenesSPINT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678145
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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