A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990208



Internal ID7061451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11364546..11369575hg38UCSC Ensembl
Outerchr11:11386093..11391122hg19UCSC Ensembl
Outerchr11:11342669..11347698hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg385030
hg195030
hg185030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564874
SamplesHuRef
Known GenesGALNT18
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990208
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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