A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789760



Internal ID19181418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196841868..196964115hg38UCSC Ensembl
Innerchr1:196810998..196933245hg19UCSC Ensembl
Innerchr1:195077621..195199868hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38122248
hg19122248
hg18122248
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891037
Supporting Variants
Samples
Known GenesCFHR2, CFHR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789760
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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