A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563854



Internal ID6688237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48488818..48498598hg38UCSC Ensembl
Outerchr17:46566180..46575960hg19UCSC Ensembl
Outerchr17:43921179..43930959hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg389781
hg199781
hg189781
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002528
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563854
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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