A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751280



Internal ID12638146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63291714..63388857hg38UCSC Ensembl
Innerchr14:63758432..63855575hg19UCSC Ensembl
Innerchr14:62828185..62925328hg18UCSC Ensembl
Innerchr14:62828185..62925328hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3897144
hg1997144
hg1897144
hg1797144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e55
Supporting Variantsessv6988436, essv6985638
SamplesBEC_316
Known GenesGPHB5, PPP2R5E, RHOJ
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)esv2751280
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