A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751205



Internal ID12984757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19954424hg38UCSC Ensembl
Innerchr14:20203125..20422583hg19UCSC Ensembl
Innerchr14:19272965..19492423hg18UCSC Ensembl
Innerchr14:19272965..19492423hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38219459
hg19219459
hg18219459
hg17219459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6986768, essv6979010, essv6990315, essv6979011, essv6979012
SamplesNA12815
Known GenesOR4K1, 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)esv2751205
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