A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv53n6



Internal ID6313965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5457106..5457209hg19UCSC Ensembl
chr18:5447106..5447209hg18UCSC Ensembl
chr18:5447106..5447209hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv131146, nsv131937
Samples
Known GenesEPB41L3
Method
Analysis
Platform
Comments
ReferenceMills et al 2006
Pubmed ID16902084
Accession Number(s)dgv53n6
Frequency
Sample Size24
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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