A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891026



Internal ID19185422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196757186..196801995hg38UCSC Ensembl
Outerchr1:196743466..196851286hg38UCSC Ensembl
Innerchr1:196726316..196771125hg19UCSC Ensembl
Outerchr1:196712596..196820416hg19UCSC Ensembl
Innerchr1:194992939..195037748hg18UCSC Ensembl
Outerchr1:194979219..195087039hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38107821
hg19107821
hg18107821
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792841, essv25779151, essv25797187, essv25787581, essv25779373, essv25779116, essv25786257, essv25785574
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891026
Frequency
Sample Size3017
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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