A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1727n54



Internal ID20135151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26992485..27219404hg38UCSC Ensembl
chr11:27014032..27240951hg19UCSC Ensembl
chr11:26970608..27197527hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38226920
hg19226920
hg18226920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv553913, nsv553912
Samples
Known GenesBBOX1, FIBIN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1727n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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