A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1853e1



Internal ID6309651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135165601..135474999hg19UCSC Ensembl
chr5:135193500..135502898hg18UCSC Ensembl
chr5:135193500..135502898hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv572, essv7179
SamplesNA18547
Known GenesFBXL21, IL9, LECT2, SLC25A48, SMAD5, SMAD5-AS1, TGFBI, VTRNA2-1
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv1853e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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