A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629686



Internal ID7016507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60461482..60575766hg38UCSC Ensembl
chr12:60855263..60969547hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38114285
hg19114285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14503090, essv14503089
SamplesNA21112, NA21125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629686
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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