A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664247



Internal ID9930352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:15055020..15056952hg38UCSC Ensembl
Outerchr21:15054983..15057002hg38UCSC Ensembl
Innerchr21:16427341..16429273hg19UCSC Ensembl
Outerchr21:16427304..16429323hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5724000
SamplesNA20538
Known GenesNRIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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