A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751161



Internal ID12984713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104341375..104496618hg38UCSC Ensembl
Innerchr14:104807712..104962955hg19UCSC Ensembl
Innerchr14:103878757..104034000hg18UCSC Ensembl
Innerchr14:103878757..104034000hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38155244
hg19155244
hg18155244
hg17155244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90e55
Supporting Variantsessv6987148, essv6985071
SamplesBEC_91
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751161
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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