A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788944



Internal ID19162648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11350271..11404725hg38UCSC Ensembl
Innerchr12:11503205..11557659hg19UCSC Ensembl
Innerchr12:11394472..11448926hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3854455
hg1954455
hg1854455
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892140
Supporting Variants
Samples
Known GenesPRB1, PRB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788944
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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