A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797755



Internal ID19167080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854170..196893438hg38UCSC Ensembl
Innerchr1:196823300..196862568hg19UCSC Ensembl
Innerchr1:195089923..195129191hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3839269
hg1939269
hg1839269
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891015
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797755
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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