A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630803



Internal ID7017618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113704089..113720549hg38UCSC Ensembl
chr12:114141894..114158354hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3816461
hg1916461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14607177
SamplesHG01392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630803
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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