A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788019



Internal ID18835590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:90539430..92587744hg38UCSC Ensembl
Innerchr4:91460581..93508895hg19UCSC Ensembl
Innerchr4:91679604..93727918hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382048315
hg192048315
hg182048315
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893983
Supporting Variants
Samples
Known GenesCCSER1, GRID2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=266
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788019
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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