A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988308



Internal ID37898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91762353..91771378hg38UCSC Ensembl
Outerchr1:92227910..92236935hg19UCSC Ensembl
Outerchr1:92000498..92009523hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg389026
hg199026
hg189026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563805
SamplesHuRef
Known GenesTGFBR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988308
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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