A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628555



Internal ID7015379
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14378631, essv14378632, essv14378630, essv14378633
SamplesNA20529, HG01325, HG02485, HG02839
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628555
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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