A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9784n54



Internal ID22777679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52071620..52136835hg38UCSC Ensembl
chr5:51367454..51432669hg19UCSC Ensembl
chr5:51403211..51468426hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3865216
hg1965216
hg1865216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598159, nsv598161, nsv598158, nsv598162
SamplesHGDP00210, HGDP00454, NINDS_178
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9784n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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