A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987553



Internal ID12630098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20248682hg38UCSC Ensembl
Innerchr14:20203125..20716841hg19UCSC Ensembl
Innerchr14:19272965..19786681hg18UCSC Ensembl
Innerchr14:19272965..19786681hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38513717
hg19513717
hg18513717
hg17513717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751268
Supporting Variants
SamplesBEC_688
Known GenesOR11G2, OR11H4, OR11H6, OR4K1, 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)essv6987553
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