A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673575



Internal ID9939680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21270453..21271104hg38UCSC Ensembl
chr20:21251091..21251742hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5473738, essv5675371, essv6198422, essv5927868, essv6160659, essv6058751, essv5445674, essv5402950, essv5928275, essv6164856
SamplesNA18861, NA19332, NA19171, NA18916, NA07347, NA20126, NA18907, NA18499, NA18856, NA12006
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673575
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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