A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651840



Internal ID14753363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111324989..111326466hg38UCSC Ensembl
Innerchr12:111324989..111326466hg38UCSC Ensembl
Outerchr12:111324869..111326595hg38UCSC Ensembl
chr12:111762793..111764270hg19UCSC Ensembl
Innerchr12:111762793..111764270hg19UCSC Ensembl
Outerchr12:111762673..111764399hg19UCSC Ensembl
chr12:110247176..110248653hg18UCSC Ensembl
Innerchr12:110247176..110248653hg18UCSC Ensembl
Outerchr12:110247056..110248782hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg381478
hg191478
hg181478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333168
Supporting Variants
SamplesNA19240
Known GenesCUX2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651840
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