A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999259



Internal ID7082094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63961483..63961950hg38UCSC Ensembl
Innerchr17:62038843..62039310hg19UCSC Ensembl
Innerchr17:59392575..59393042hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38468
hg19468
hg18468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586844
SamplesHuRef
Known GenesSCN4A
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999259
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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