A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9733n54



Internal ID20143157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628506..42630866hg38UCSC Ensembl
chr5:42628608..42630968hg19UCSC Ensembl
chr5:42664365..42666725hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382361
hg192361
hg182361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597893, nsv597895, nsv597894, nsv597892
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9733n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss178
Observed Complex0
Frequencyn/a


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