A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692707



Internal ID14686687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42669873..42670971hg38UCSC Ensembl
Innerchr21:42669971..42670873hg38UCSC Ensembl
Outerchr21:42668873..42671971hg38UCSC Ensembl
chr21:44089983..44091081hg19UCSC Ensembl
Innerchr21:44090081..44090983hg19UCSC Ensembl
Outerchr21:44088983..44092081hg19UCSC Ensembl
chr21:42963052..42964150hg18UCSC Ensembl
Innerchr21:42964052..42963150hg18UCSC Ensembl
Outerchr21:42962052..42965150hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424192
Supporting Variants
SamplesNA19238
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692707
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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