A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988291



Internal ID1843163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179233076..179240737hg19UCSC Ensembl
Outerchr5:179165682..179173343hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg194558
hg184558
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565403
SamplesHuRef
Known GenesMGAT4B, SQSTM1
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)esv988291
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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