A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789010



Internal ID19176926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131583545..131697664hg38UCSC Ensembl
Innerchr12:132068090..132182209hg19UCSC Ensembl
Innerchr12:130634043..130748162hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38114120
hg19114120
hg18114120
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892283
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789010
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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