A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788026



Internal ID19170023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52464093..52598090hg38UCSC Ensembl
Innerchr8:53376653..53510650hg19UCSC Ensembl
Innerchr8:53539206..53673203hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38133998
hg19133998
hg18133998
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891394
Supporting Variants
Samples
Known GenesFAM150A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788026
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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