A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892549



Internal ID19183369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55725823..55785344hg38UCSC Ensembl
Outerchr14:55718783..55798458hg38UCSC Ensembl
Innerchr14:56192541..56252062hg19UCSC Ensembl
Outerchr14:56185501..56265176hg19UCSC Ensembl
Innerchr14:55262294..55321815hg18UCSC Ensembl
Outerchr14:55255254..55334929hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3879676
hg1979676
hg1879676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791151, essv25790249, essv25790907, essv25791580, essv25788334, essv25792471, essv25789573, essv25788034, essv25790257, essv25792470, essv25789137, essv25788927, essv25792253, essv25792126, essv25788273, essv25789175, essv25791520, essv25789632, essv25791111, essv25787860, essv25788398, essv25787914, essv25792082, essv25789900
Samples
Known GenesLINC00520, RPL13AP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892549
Frequency
Sample Size3017
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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