A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362105



Internal ID14862366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42662273..42664271hg38UCSC Ensembl
Innerchr21:42663271..42663273hg38UCSC Ensembl
Outerchr21:42661273..42665271hg38UCSC Ensembl
chr21:44082383..44084381hg19UCSC Ensembl
Innerchr21:44083381..44083383hg19UCSC Ensembl
Outerchr21:44081383..44085381hg19UCSC Ensembl
chr21:42955452..42957450hg18UCSC Ensembl
Innerchr21:42956452..42956450hg18UCSC Ensembl
Outerchr21:42954452..42958450hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692705
SamplesNA19240
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362105
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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