A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008305



Internal ID6720415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82686997..82687452hg38UCSC Ensembl
Innerchr12:83080776..83081231hg19UCSC Ensembl
Innerchr12:81604907..81605362hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38456
hg19456
hg18456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587271
SamplesHuRef
Known GenesTMTC2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008305
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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