A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688552



Internal ID15044625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116374764..116376362hg38UCSC Ensembl
Innerchr12:116375362..116375764hg38UCSC Ensembl
Outerchr12:116373764..116377362hg38UCSC Ensembl
chr12:116812569..116814167hg19UCSC Ensembl
Innerchr12:116813167..116813569hg19UCSC Ensembl
Outerchr12:116811569..116815167hg19UCSC Ensembl
chr12:115296952..115298550hg18UCSC Ensembl
Innerchr12:115297952..115297550hg18UCSC Ensembl
Outerchr12:115295952..115299550hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345307
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688552
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