A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692704



Internal ID14722436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42662273..42663471hg38UCSC Ensembl
Innerchr21:42662471..42663273hg38UCSC Ensembl
Outerchr21:42661273..42664471hg38UCSC Ensembl
chr21:44082383..44083581hg19UCSC Ensembl
Innerchr21:44082581..44083383hg19UCSC Ensembl
Outerchr21:44081383..44084581hg19UCSC Ensembl
chr21:42955452..42956650hg18UCSC Ensembl
Innerchr21:42956452..42955650hg18UCSC Ensembl
Outerchr21:42954452..42957650hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344568
Supporting Variants
SamplesNA19239
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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