A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797187



Internal ID19165767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743466..196801995hg38UCSC Ensembl
Innerchr1:196712596..196771125hg19UCSC Ensembl
Innerchr1:194979219..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3858530
hg1958530
hg1858530
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891026
Supporting Variants
Samples
Known GenesCFH, CFHR3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797187
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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