A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604422



Internal ID4606238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111679417..111731317hg38UCSC Ensembl
chr12:112117221..112169121hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3851901
hg1951901
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630762
Supporting Variants
SamplesHG02816
Known GenesACAD10, BRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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