A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3253496



Internal ID10926476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:23786588..23787155hg38UCSC Ensembl
Outerchr12:23939522..23940089hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7523063
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3253496
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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