A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987725



Internal ID1860586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4848777..4848831hg19UCSC Ensembl
chr3:4823777..4823831hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg1955
hg1855
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3571891
SamplesHuRef
Known GenesITPR1
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)esv987725
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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