A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993321



Internal ID6729281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50082646..50088435hg38UCSC Ensembl
Outerchr17:48160010..48165799hg19UCSC Ensembl
Outerchr17:45515009..45520798hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg382716
hg192716
hg182716
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565074
SamplesHuRef
Known GenesITGA3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993321
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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