A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2189n54



Internal ID20135613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125205679..125213220hg38UCSC Ensembl
chr11:125075575..125083116hg19UCSC Ensembl
chr11:124580785..124588326hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg387542
hg197542
hg187542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556493, nsv556506, nsv556494, nsv556499, nsv556518, nsv556492
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2189n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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