A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004208



Internal ID1858710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17136933..17147885hg19UCSC Ensembl
Outerchr17:17077658..17088610hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg195053
hg185053
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565486
SamplesHuRef
Known GenesFLCN
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
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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