A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751290



Internal ID12638156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95313512..95649946hg38UCSC Ensembl
Innerchr14:95779849..96116283hg19UCSC Ensembl
Innerchr14:94849602..95186036hg18UCSC Ensembl
Innerchr14:94849602..95186036hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38336435
hg19336435
hg18336435
hg17336435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv89e55
Supporting Variantsessv6987585, essv6984392, essv6984393, essv6987586, essv6984394
SamplesBEC_701
Known GenesCLMN, GLRX5, LINC00341, SCARNA13, SNHG10, SYNE3
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)esv2751290
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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