A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630504



Internal ID7017321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98294998..98333979hg38UCSC Ensembl
chr12:98688776..98727757hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3838982
hg1938982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14585246, essv14585245, essv14585241, essv14585244, essv14585243, essv14585242
SamplesHG03784, HG03780, HG03771, HG03838, HG03870, HG04056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630504
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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