A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988485



Internal ID12974335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20015468hg38UCSC Ensembl
Innerchr14:20203125..20483627hg19UCSC Ensembl
Innerchr14:19272965..19553467hg18UCSC Ensembl
Innerchr14:19272965..19553467hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280503
hg19280503
hg18280503
hg17280503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751261
Supporting Variants
SamplesBEC_515
Known GenesOR4K1, OR4K14, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988485
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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