A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12978n54



Internal ID22780873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134767842..134787857hg38UCSC Ensembl
chr9:137659688..137679703hg19UCSC Ensembl
chr9:136799509..136819524hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3820016
hg1920016
hg1820016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615838, nsv615837
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12978n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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