A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12857n54



Internal ID20146281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114145168..114171169hg38UCSC Ensembl
chr9:116907448..116933449hg19UCSC Ensembl
chr9:115947269..115973270hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3826002
hg1926002
hg1826002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615228, nsv615229
SamplesNINDS_49, HGDP00976
Known GenesCOL27A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12857n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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