A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10088n54



Internal ID20143512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138465844..138479962hg38UCSC Ensembl
chr5:137801533..137815651hg19UCSC Ensembl
chr5:137829432..137843550hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3814119
hg1914119
hg1814119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599798, nsv599799, nsv599800
Samples
Known GenesEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10088n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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