A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692710



Internal ID14766768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42669873..42671071hg38UCSC Ensembl
Innerchr21:42670071..42670873hg38UCSC Ensembl
Outerchr21:42668873..42672071hg38UCSC Ensembl
chr21:44089983..44091181hg19UCSC Ensembl
Innerchr21:44090181..44090983hg19UCSC Ensembl
Outerchr21:44088983..44092181hg19UCSC Ensembl
chr21:42963052..42964250hg18UCSC Ensembl
Innerchr21:42964052..42963250hg18UCSC Ensembl
Outerchr21:42962052..42965250hg18UCSC 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 Variantsesv3331071
Supporting Variants
SamplesNA19240
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692710
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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