A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781476



Internal ID19179727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110569847..110630296hg38UCSC Ensembl
Innerchr5:109905548..109965997hg19UCSC Ensembl
Innerchr5:109933447..109993896hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3860450
hg1960450
hg1860450
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 HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781476
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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