A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628543



Internal ID6668686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10720386..10881212hg38UCSC Ensembl
chr12:10872985..11033811hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38160827
hg19160827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14376480
SamplesHG01256
Known GenesPRH1, PRH1-PRR4, PRR4, TAS2R10, TAS2R7, TAS2R8, TAS2R9, YBX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628543
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer