A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002945



Internal ID7068053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45380378..45390472hg38UCSC Ensembl
Outerchr13:45954513..45964607hg19UCSC Ensembl
Outerchr13:44852513..44862607hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3810095
hg1910095
hg1810095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564411
SamplesHuRef
Known GenesTPT1-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002945
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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