A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981118



Internal ID12626151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19735001..20158001hg38UCSC Ensembl
Innerchr14:20203160..20626160hg19UCSC Ensembl
Innerchr14:19273000..19696000hg18UCSC Ensembl
Innerchr14:19273000..19696000hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38423001
hg19423001
hg18423001
hg17423001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751267
Supporting Variants
SamplesBEC_354
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981118
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