A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7523063



Internal ID10454659
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 StatusS
Merged Variantsesv3253496
Supporting Variants
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7523063
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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