A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49n50



Internal ID22767878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99008818..99011808hg38UCSC Ensembl
chr5:98344522..98347512hg19UCSC Ensembl
chr5:98372422..98375412hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382991
hg192991
hg182991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv513249, nsv511300
Samples1
Known Genes
MethodSequencing
SNP array
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
Analysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Not reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)dgv49n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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