A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798428



Internal ID19182703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129823771..129850005hg38UCSC Ensembl
Innerchr11:129693666..129719900hg19UCSC Ensembl
Innerchr11:129198876..129225110hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3826235
hg1926235
hg1826235
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892108
Supporting Variants
Samples
Known GenesTMEM45B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798428
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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