A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892461



Internal ID18836595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18673784..19723710hg38UCSC Ensembl
Outerchr14:18223945..19989329hg38UCSC Ensembl
Innerchr14:19450261..20191869hg19UCSC Ensembl
Outerchr14:19000422..20457488hg19UCSC Ensembl
Innerchr14:18520261..19261709hg18UCSC Ensembl
Outerchr14:18070422..19527328hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381765385
hg191457067
hg181456907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791082, essv25792572, essv25791174, essv25792027, essv25791031, essv25792463, essv25791942, essv25792172, essv25791013, essv25792051, essv25792035, essv25791765, essv25791308, essv25791560, essv25791475, essv25791233, essv25792397, essv25790983, essv25791379, essv25791853, essv25792245, essv25791330, essv25791494, essv25790498, essv25791150, essv25790541, essv25790521, essv25789745, essv25792288, essv25790993, essv25792339, essv25791530, essv25791694, essv25791861, essv25791532, essv25791606, essv25790620, essv25791927, essv25791387, essv25791543, essv25790305, essv25791561, essv25790922, essv25792400, essv25791026
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892461
Frequency
Sample Size3017
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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