A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9811n54



Internal ID20143235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60833534..60971048hg38UCSC Ensembl
chr5:60129361..60266875hg19UCSC Ensembl
chr5:60165118..60302632hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38137515
hg19137515
hg18137515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598309, nsv598306
SamplesHGDP00565
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9811n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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