A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893983



Internal ID18838151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:90539430..92587744hg38UCSC Ensembl
Outerchr4:90539430..92587744hg38UCSC Ensembl
Innerchr4:91460581..93508895hg19UCSC Ensembl
Outerchr4:91460581..93508895hg19UCSC Ensembl
Innerchr4:91679604..93727918hg18UCSC Ensembl
Outerchr4:91679604..93727918hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382048315
hg192048315
hg182048315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788019
Samples
Known GenesCCSER1, GRID2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893983
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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