A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14378630



Internal ID1437766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10984460..10989296hg38UCSC Ensembl
chr12:11137059..11141895hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384837
hg194837
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628555
Supporting Variants
SamplesHG01325
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14378630
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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