A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987585



Internal ID12630233
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 StatusS
Merged Variantsesv2751290
Supporting Variants
SamplesBEC_701
Known GenesCLMN, GLRX5, LINC00341, SCARNA13, SNHG10, SYNE3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987585
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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