A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751283



Internal ID12638149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63312397..63388857hg38UCSC Ensembl
Innerchr14:63779111..63855575hg19UCSC Ensembl
Innerchr14:62848864..62925328hg18UCSC Ensembl
Innerchr14:62848864..62925328hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3876461
hg1976465
hg1876465
hg1776465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e55
Supporting Variantsessv6983868, essv6983867
SamplesBEC_727
Known GenesGPHB5, PPP2R5E
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)esv2751283
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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