A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988720



Internal ID12629328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95326385..95675258hg38UCSC Ensembl
Innerchr14:95792722..96141595hg19UCSC Ensembl
Innerchr14:94862475..95211348hg18UCSC Ensembl
Innerchr14:94862475..95211348hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38348874
hg19348874
hg18348874
hg17348874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751289
Supporting Variants
SamplesBEC_632
Known GenesGLRX5, LINC00341, SCARNA13, SNHG10, SYNE3, TCL6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988720
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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