A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004208



Internal ID29911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17233619..17244571hg38UCSC Ensembl
Outerchr17:17136933..17147885hg19UCSC Ensembl
Outerchr17:17077658..17088610hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3810953
hg1910953
hg1810953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565486
SamplesHuRef
Known GenesFLCN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004208
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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