A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785574



Internal ID19178789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196757186..196841868hg38UCSC Ensembl
Innerchr1:196726316..196810998hg19UCSC Ensembl
Innerchr1:194992939..195077621hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884683
hg1984683
hg1884683
Variant TypeCNV loss
Copy Number1
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=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785574
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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