A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416485



Internal ID14916758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41835830..41835830hg38UCSC Ensembl
Innerchr21:41835829..41835831hg38UCSC Ensembl
Outerchr21:41835770..41835880hg38UCSC Ensembl
chr21:43255939..43255939hg19UCSC Ensembl
Innerchr21:43255938..43255940hg19UCSC Ensembl
Outerchr21:43255879..43255989hg19UCSC Ensembl
chr21:42129008..42129008hg18UCSC Ensembl
Innerchr21:42129009..42129007hg18UCSC Ensembl
Outerchr21:42128948..42129058hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8826424
SamplesNA12878
Known GenesPRDM15
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416485
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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