A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997341



Internal ID6733283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3617989..3627334hg38UCSC Ensembl
Outerchr17:3521283..3530628hg19UCSC Ensembl
Outerchr17:3468032..3477377hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg389346
hg199346
hg189346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564069
SamplesHuRef
Known GenesSHPK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997341
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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