A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792468



Internal ID19159629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328123..11367487hg38UCSC Ensembl
Innerchr12:11481057..11520421hg19UCSC Ensembl
Innerchr12:11372324..11411688hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3839365
hg1939365
hg1839365
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892142
Supporting Variants
Samples
Known GenesPRB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792468
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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