A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751282



Internal ID12638148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63312397..63388087hg38UCSC Ensembl
Innerchr14:63779111..63854805hg19UCSC Ensembl
Innerchr14:62848864..62924558hg18UCSC Ensembl
Innerchr14:62848864..62924558hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3875691
hg1975695
hg1875695
hg1775695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e55
Supporting Variantsessv6985658, essv6981732
SamplesBEC_330
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)esv2751282
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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