A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664294



Internal ID9930399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17844225..17844711hg38UCSC Ensembl
chr20:17824869..17825355hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6350154, essv5551963, essv6476102, essv5701001, essv5844907, essv6254185, essv5782113, essv5884773, essv6189411, essv5752685, essv5686013
SamplesNA19399, NA19396, NA19379, NA18519, NA18498, NA18516, NA18853, NA19147, NA18517, NA19376, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664294
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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