A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978585



Internal ID12978797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19921715hg38UCSC Ensembl
Innerchr14:20203125..20389874hg19UCSC Ensembl
Innerchr14:19272965..19459714hg18UCSC Ensembl
Innerchr14:19272965..19459714hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38186750
hg19186750
hg18186750
hg17186750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34286
Supporting Variants
SamplesNA12004
Known GenesOR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978585
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