A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010760



Internal ID1854658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6277551..6293246hg19UCSC Ensembl
Outerchr4:6328452..6344147hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg196886
hg186886
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3563772
SamplesHuRef
Known GenesWFS1
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)esv1010760
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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