A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331874



Internal ID15178863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42993443..42994492hg38UCSC Ensembl
Innerchr21:42993443..42994492hg38UCSC Ensembl
Outerchr21:42993261..42994515hg38UCSC Ensembl
chr21:44413553..44414602hg19UCSC Ensembl
Innerchr21:44413553..44414602hg19UCSC Ensembl
Outerchr21:44413371..44414625hg19UCSC Ensembl
chr21:43286622..43287671hg18UCSC Ensembl
Innerchr21:43286622..43287671hg18UCSC Ensembl
Outerchr21:43286440..43287694hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381050
hg191050
hg181050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652142
SamplesNA19240
Known GenesPKNOX1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331874
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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