A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791150



Internal ID18813115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18580235..19955706hg38UCSC Ensembl
Innerchr14:19356712..20423865hg19UCSC Ensembl
Innerchr14:18426712..19493705hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381375472
hg191067154
hg181066994
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892461
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=127
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791150
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