A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988308



Internal ID1846238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92227910..92236935hg19UCSC Ensembl
Outerchr1:92000498..92009523hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg192498
hg182498
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3563805
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)esv988308
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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