A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3250385



Internal ID11270051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19173949..19174721hg38UCSC Ensembl
Outerchr13:19748089..19748861hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7519952
SamplesHuRef
Known GenesTUBA3C
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3250385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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