A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796408



Internal ID19168415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110568461..110640887hg38UCSC Ensembl
Innerchr5:109904162..109976588hg19UCSC Ensembl
Innerchr5:109932061..110004487hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3872427
hg1972427
hg1872427
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890709
Supporting Variants
Samples
Known GenesTMEM232
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796408
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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