A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788991



Internal ID18813666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:27063816..27240740hg38UCSC Ensembl
Innerchr11:27085363..27262287hg19UCSC Ensembl
Innerchr11:27041939..27218863hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38176925
hg19176925
hg18176925
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891957
Supporting Variants
Samples
Known GenesBBOX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788991
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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