A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668236



Internal ID9934341
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6182019, essv5603457, essv5414194, essv5817885, essv6372438, essv6170963, essv6537340, essv6116280, essv6390301, essv5482933, essv5483060
SamplesNA19701, NA18510, NA19916, NA18520, NA19239, NA19985, NA19455, NA19375, NA19240, NA19835, NA19467
Known GenesADA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668236
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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