A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14519804



Internal ID4521620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67730423..67812260hg38UCSC Ensembl
chr12:68124203..68206040hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3881838
hg1981838
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629838
Supporting Variants
SamplesNA19056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14519804
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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