A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997031



Internal ID6732973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4577436..4590654hg38UCSC Ensembl
Outerchr17:4480731..4493949hg19UCSC Ensembl
Outerchr17:4427480..4440698hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813219
hg1913219
hg1813219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565238
SamplesHuRef
Known GenesSMTNL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997031
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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