A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751158



Internal ID1703286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101068289..101319247hg19UCSC Ensembl
Innerchr14:100138042..100389000hg18UCSC Ensembl
Innerchr14:100138042..100389000hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6981594, essv6981596, essv6981593, essv6981595, essv6988425
SamplesBEC_303
Known GenesC14orf70, DLK1, MEG3, MIR2392, MIR770
Method
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set (Pinto2007.txt)
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751158
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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