A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84200



Internal ID11394147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769767..196929534hg38UCSC Ensembl
Innerchr1:196738897..196898664hg19UCSC Ensembl
Innerchr1:195005520..195165287hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38159768
hg19159768
hg18159768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv29961
Supporting Variants
SamplesWATSON
Known GenesCFHR1, CFHR3, CFHR4
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)essv84200
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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