A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9747n54



Internal ID22777642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45303570..45414256hg38UCSC Ensembl
chr5:45303672..45414358hg19UCSC Ensembl
chr5:45339429..45450115hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38110687
hg19110687
hg18110687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597976, nsv597975, nsv597977
SamplesHGDP01238
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9747n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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