A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449400



Internal ID14949663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44674263..44674282hg38UCSC Ensembl
Innerchr21:44674259..44674286hg38UCSC Ensembl
Outerchr21:44674240..44674305hg38UCSC Ensembl
chr21:46094180..46094199hg19UCSC Ensembl
Innerchr21:46094176..46094203hg19UCSC Ensembl
Outerchr21:46094157..46094222hg19UCSC Ensembl
chr21:44918608..44918627hg18UCSC Ensembl
Innerchr21:44918631..44918604hg18UCSC Ensembl
Outerchr21:44918585..44918650hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9680580
SamplesNA12043
Known GenesTSPEAR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449400
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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