A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000588



Internal ID6712730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31227504..31236280hg38UCSC Ensembl
Innerchr17:29554522..29563298hg19UCSC Ensembl
Innerchr17:26578648..26587424hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388777
hg198777
hg188777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586129
SamplesHuRef
Known GenesNF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000588
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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