A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14610999



Internal ID4612815
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630848
Supporting Variants
SamplesHG00623
Known GenesC12orf49, LINC00173, MAP1LC3B2, MIR4472-2, RNFT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14610999
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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