A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692542



Internal ID15112503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38589695..38590893hg38UCSC Ensembl
Innerchr20:38589893..38590695hg38UCSC Ensembl
Outerchr20:38588695..38591893hg38UCSC Ensembl
chr20:37218338..37219536hg19UCSC Ensembl
Innerchr20:37218536..37219338hg19UCSC Ensembl
Outerchr20:37217338..37220536hg19UCSC Ensembl
chr20:36651752..36652950hg18UCSC Ensembl
Innerchr20:36652752..36651950hg18UCSC Ensembl
Outerchr20:36650752..36653950hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435136
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692542
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