A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792243



Internal ID18820945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134054794..134328278hg38UCSC Ensembl
Innerchr11:133924689..134198172hg19UCSC Ensembl
Innerchr11:133429899..133703382hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38273485
hg19273484
hg18273484
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892114
Supporting Variants
Samples
Known GenesACAD8, GLB1L3, JAM3, NCAPD3, THYN1, VPS26B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792243
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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