A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9914n54



Internal ID22777809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84722520..84817037hg38UCSC Ensembl
chr5:84018338..84112855hg19UCSC Ensembl
chr5:84054094..84148611hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3894518
hg1994518
hg1894518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598815, nsv598816
SamplesHGDP00001, HGDP00007, HGDP00230
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9914n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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