A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3253385



Internal ID10926365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27281070..27281401hg38UCSC Ensembl
Outerchr12:27434003..27434334hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7522952
SamplesHuRef
Known GenesSTK38L
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3253385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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