A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575049



Internal ID6699745
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988520
Supporting Variants
SamplesHuRef
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575049
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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