A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788434



Internal ID18830272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32901584..32957298hg38UCSC Ensembl
Innerchr19:33392490..33448204hg19UCSC Ensembl
Innerchr19:38084330..38140044hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3855715
hg1955715
hg1855715
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893199
Supporting Variants
Samples
Known GenesCEP89
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788434
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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