A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84179



Internal ID11047440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248564598..248645127hg38UCSC Ensembl
Innerchr1:248727899..248808428hg19UCSC Ensembl
Innerchr1:246794522..246875051hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3880530
hg1980530
hg1880530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv29940
Supporting Variants
SamplesWATSON
Known GenesOR2T10, OR2T11, OR2T34, OR2T35
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)essv84179
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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