A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751159



Internal ID12984711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104311687..104520065hg38UCSC Ensembl
Innerchr14:104778024..104986402hg19UCSC Ensembl
Innerchr14:103849069..104057447hg18UCSC Ensembl
Innerchr14:103849069..104057447hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38208379
hg19208379
hg18208379
hg17208379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90e55
Supporting Variantsessv6982769, essv6982770
SamplesBEC_590
Known Genes
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)esv2751159
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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