A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6508306



Internal ID9485709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110721163..110722097hg38UCSC Ensembl
Outerchr12:110721126..110722147hg38UCSC Ensembl
Innerchr12:111158968..111159902hg19UCSC Ensembl
Outerchr12:111158931..111159952hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657045
Supporting Variants
SamplesHG00245
Known GenesPPP1CC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6508306
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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