A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14584591



Internal ID1412302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98002080..98019719hg38UCSC Ensembl
chr12:98395858..98413497hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817640
hg1917640
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630495
Supporting Variants
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14584591
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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