A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302526



Internal ID15149473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39326008..39326110hg38UCSC Ensembl
Innerchr20:39326059..39326059hg38UCSC Ensembl
Outerchr20:39325908..39326210hg38UCSC Ensembl
chr20:37954651..37954753hg19UCSC Ensembl
Innerchr20:37954702..37954702hg19UCSC Ensembl
Outerchr20:37954551..37954853hg19UCSC Ensembl
chr20:37388065..37388167hg18UCSC Ensembl
Innerchr20:37388116..37388116hg18UCSC Ensembl
Outerchr20:37387965..37388267hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7730842, essv7731390
SamplesNA19238, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302526
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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