A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989733



Internal ID1850920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92232063..92233334hg19UCSC Ensembl
chr1:92004651..92005922hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg191272
hg181272
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3582040
SamplesHuRef
Known GenesTGFBR3
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)esv989733
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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