A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792841



Internal ID19178926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196748507..196851286hg38UCSC Ensembl
Innerchr1:196717637..196820416hg19UCSC Ensembl
Innerchr1:194984260..195087039hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38102780
hg19102780
hg18102780
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891026
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792841
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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