A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630848



Internal ID6670981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116339176..116814937hg38UCSC Ensembl
Innerchr12:116339326..116814787hg38UCSC Ensembl
Outerchr12:116339026..116815087hg38UCSC Ensembl
chr12:116776981..117252742hg19UCSC Ensembl
Innerchr12:116777131..117252592hg19UCSC Ensembl
Outerchr12:116776831..117252892hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38475762
hg19475762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611002, essv14611000, essv14610999, essv14611001
SamplesHG01357, NA20759, HG02322, HG00623
Known GenesC12orf49, LINC00173, MAP1LC3B2, MIR4472-2, RNFT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630848
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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