A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988648



Internal ID12628436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19798901..19952001hg38UCSC Ensembl
Innerchr14:20267060..20420160hg19UCSC Ensembl
Innerchr14:19336900..19490000hg18UCSC Ensembl
Innerchr14:19336900..19490000hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38153101
hg19153101
hg18153101
hg17153101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751265
Supporting Variants
SamplesBEC_563
Known GenesOR4K1, OR4K2, OR4K5, OR4N2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988648
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