A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692711



Internal ID14722473
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 StatusS
Merged Variantsesv3395334
Supporting Variants
SamplesNA19239
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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