A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670942



Internal ID13657292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39326036..39326136hg38UCSC Ensembl
Innerchr20:39326057..39326113hg38UCSC Ensembl
Outerchr20:39326013..39326157hg38UCSC Ensembl
chr20:37954679..37954779hg19UCSC Ensembl
Innerchr20:37954700..37954756hg19UCSC Ensembl
Outerchr20:37954656..37954800hg19UCSC Ensembl
chr20:37388093..37388193hg18UCSC Ensembl
Innerchr20:37388114..37388170hg18UCSC Ensembl
Outerchr20:37388070..37388214hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442523
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670942
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