A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9889n54



Internal ID22777784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78648180..78649112hg38UCSC Ensembl
chr5:77944003..77944935hg19UCSC Ensembl
chr5:77979759..77980691hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38933
hg19933
hg18933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598703, nsv598711, nsv598707
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9889n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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