A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547262



Internal ID4549078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79888311..79911690hg38UCSC Ensembl
Innerchr12:79888311..79911690hg38UCSC Ensembl
Outerchr12:79887811..79912190hg38UCSC Ensembl
chr12:80282091..80305470hg19UCSC Ensembl
Innerchr12:80282091..80305470hg19UCSC Ensembl
Outerchr12:80281591..80305970hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3823380
hg1923380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630092
Supporting Variants
SamplesNA19315
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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