A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990886



Internal ID6726852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31260028..31262243hg38UCSC Ensembl
Innerchr17:29587046..29589261hg19UCSC Ensembl
Innerchr17:26611172..26613387hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382216
hg192216
hg182216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587057
SamplesHuRef
Known GenesNF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990886
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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