A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9728n54



Internal ID20143152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37839675..37840407hg38UCSC Ensembl
chr5:37839777..37840509hg19UCSC Ensembl
chr5:37875534..37876266hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38733
hg19733
hg18733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597852, nsv597853, nsv597851
Samples
Known GenesGDNF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9728n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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