A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9800n54



Internal ID22777695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59597460..59650813hg38UCSC Ensembl
chr5:58893286..58946639hg19UCSC Ensembl
chr5:58929043..58982396hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3853354
hg1953354
hg1853354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598257, nsv598256
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9800n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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