A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892114



Internal ID18839824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134054794..134328278hg38UCSC Ensembl
Outerchr11:134054794..134328278hg38UCSC Ensembl
Innerchr11:133924689..134198172hg19UCSC Ensembl
Outerchr11:133924689..134198172hg19UCSC Ensembl
Innerchr11:133429899..133703382hg18UCSC Ensembl
Outerchr11:133429899..133703382hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38273485
hg19273484
hg18273484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792243
Samples
Known GenesACAD8, GLB1L3, JAM3, NCAPD3, THYN1, VPS26B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892114
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer