A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34505



Internal ID12990542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19987101hg38UCSC Ensembl
Innerchr14:20203125..20455260hg19UCSC Ensembl
Innerchr14:19272965..19525100hg18UCSC Ensembl
Innerchr14:19272965..19525100hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38252136
hg19252136
hg18252136
hg17252136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6984914, essv6987112, essv6984913, essv6984912, essv6988867
SamplesSPC_193
Known GenesOR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34505
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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