A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988520



Internal ID6724491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125183189..125183478hg38UCSC Ensembl
chr11:125053085..125053374hg19UCSC Ensembl
chr11:124558295..124558584hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575049
SamplesHuRef
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988520
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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