A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565522



Internal ID7036904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196742223..196860102hg38UCSC Ensembl
Outerchr1:196711353..196829232hg19UCSC Ensembl
Outerchr1:194977976..195095855hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38117880
hg19117880
hg18117880
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001500
Supporting Variants
SamplesHuRef
Known GenesCFH, CFHR1, CFHR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565522
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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