A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007058



Internal ID7072151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48111379..48123005hg38UCSC Ensembl
Outerchr17:46188741..46200367hg19UCSC Ensembl
Outerchr17:43543740..43555366hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3811627
hg1911627
hg1811627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565548
SamplesHuRef
Known GenesSNX11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007058
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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