A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751226



Internal ID12984778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964642hg38UCSC Ensembl
Innerchr14:20203125..20432801hg19UCSC Ensembl
Innerchr14:19272965..19502641hg18UCSC Ensembl
Innerchr14:19272965..19502641hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229677
hg19229677
hg18229677
hg17229677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6988350, essv6985463
SamplesBEC_348
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751226
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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