A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993450



Internal ID6729407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43939381..43945649hg38UCSC Ensembl
Outerchr17:42016749..42023017hg19UCSC Ensembl
Outerchr17:39372275..39378543hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386269
hg196269
hg186269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563793
SamplesHuRef
Known GenesPPY
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993450
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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