A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14475428



Internal ID4477244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48142951..48278499hg38UCSC Ensembl
chr12:48536734..48672282hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38135549
hg19135549
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629429
Supporting Variants
SamplesNA18563
Known GenesASB8, C12orf68, OR10AD1, PFKM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14475428
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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