A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789355



Internal ID19182331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196794809..196913214hg38UCSC Ensembl
Innerchr1:196763939..196882344hg19UCSC Ensembl
Innerchr1:195030562..195148967hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38118406
hg19118406
hg18118406
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891004
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789355
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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