A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988291



Internal ID37881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179806076..179813737hg38UCSC Ensembl
Outerchr5:179233076..179240737hg19UCSC Ensembl
Outerchr5:179165682..179173343hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387662
hg197662
hg187662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565403
SamplesHuRef
Known GenesMGAT4B, SQSTM1
MethodSequencing
Analysis
PlatformSanger Sequencing
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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