A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751289



Internal ID12638155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95292222..95675258hg38UCSC Ensembl
Innerchr14:95758559..96141595hg19UCSC Ensembl
Innerchr14:94828312..95211348hg18UCSC Ensembl
Innerchr14:94828312..95211348hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38383037
hg19383037
hg18383037
hg17383037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv89e55
Supporting Variantsessv6983834, essv6987433, essv6988720
SamplesBEC_632
Known GenesCLMN, GLRX5, LINC00341, SCARNA13, SNHG10, SYNE3, TCL6
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)esv2751289
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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