A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751158



Internal ID12984710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100601952..100852910hg38UCSC Ensembl
Innerchr14:101068289..101319247hg19UCSC Ensembl
Innerchr14:100138042..100389000hg18UCSC Ensembl
Innerchr14:100138042..100389000hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38250959
hg19250959
hg18250959
hg17250959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981594, essv6988425, essv6981596, essv6981593, essv6981595
SamplesBEC_303
Known GenesDLK1, LINC00523, MEG3, MIR2392, MIR770
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)esv2751158
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