A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892140



Internal ID19186536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11350271..11390068hg38UCSC Ensembl
Outerchr12:11323791..11404725hg38UCSC Ensembl
Innerchr12:11503205..11543002hg19UCSC Ensembl
Outerchr12:11476725..11557659hg19UCSC Ensembl
Innerchr12:11394472..11434269hg18UCSC Ensembl
Outerchr12:11367992..11448926hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3880935
hg1980935
hg1880935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791527, essv25791021, essv25793168, essv25789184, essv25790344, essv25790233, essv25788554, essv25790004, essv25790574, essv25790298, essv25792348, essv25790360, essv25790156, essv25792494, essv25790337, essv25791865, essv25788933, essv25788429, essv25789665, essv25793018, essv25788944, essv25790049, essv25790106, essv25790056, essv25788714, essv25792377, essv25789289, essv25791019, essv25792851, essv25789249, essv25790126, essv25791353, essv25792615
Samples
Known GenesPRB1, PRB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892140
Frequency
Sample Size3017
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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