A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9810n54



Internal ID20143234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60820786..61017188hg38UCSC Ensembl
chr5:60116613..60313015hg19UCSC Ensembl
chr5:60152370..60348772hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38196403
hg19196403
hg18196403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598311, nsv598312, nsv598307, nsv598305, nsv598310
Samples
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9810n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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