A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395334



Internal ID14895612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42690973..42691871hg38UCSC Ensembl
Innerchr21:42690972..42691872hg38UCSC Ensembl
Outerchr21:42689973..42692871hg38UCSC Ensembl
chr21:44111083..44111981hg19UCSC Ensembl
Innerchr21:44111082..44111982hg19UCSC Ensembl
Outerchr21:44110083..44112981hg19UCSC Ensembl
chr21:42984152..42985050hg18UCSC Ensembl
Innerchr21:42985051..42984151hg18UCSC Ensembl
Outerchr21:42983152..42986050hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692711
SamplesNA19239
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395334
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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