A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5456899



Internal ID8434302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79908835..79910122hg38UCSC Ensembl
Outerchr12:79908798..79910172hg38UCSC Ensembl
Innerchr12:80302615..80303902hg19UCSC Ensembl
Outerchr12:80302578..80303952hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658648
Supporting Variants
SamplesHG00111
Known GenesPPP1R12A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5456899
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