A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731611



Internal ID15087601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10323922..10324069hg38UCSC Ensembl
Innerchr20:10323995..10323996hg38UCSC Ensembl
Outerchr20:10323822..10324169hg38UCSC Ensembl
chr20:10304570..10304717hg19UCSC Ensembl
Innerchr20:10304643..10304644hg19UCSC Ensembl
Outerchr20:10304470..10304817hg19UCSC Ensembl
chr20:10252570..10252717hg18UCSC Ensembl
Innerchr20:10252644..10252643hg18UCSC Ensembl
Outerchr20:10252470..10252817hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302553
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731611
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer