A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996035



Internal ID7080345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41375540..41381644hg38UCSC Ensembl
Outerchr19:41881445..41887549hg19UCSC Ensembl
Outerchr19:46573285..46579389hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386105
hg196105
hg186105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563826
SamplesHuRef
Known GenesTMEM91
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996035
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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