A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440793



Internal ID14941060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41828946..41828949hg38UCSC Ensembl
Innerchr21:41828940..41828955hg38UCSC Ensembl
Outerchr21:41828937..41828958hg38UCSC Ensembl
chr21:43249302..43249305hg19UCSC Ensembl
Innerchr21:43249296..43249311hg19UCSC Ensembl
Outerchr21:43249293..43249314hg19UCSC Ensembl
chr21:42122371..42122374hg18UCSC Ensembl
Innerchr21:42122380..42122365hg18UCSC Ensembl
Outerchr21:42122362..42122383hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866222, essv7866223
SamplesNA07346, NA18522
Known GenesPRDM15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440793
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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