A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983834



Internal ID12629326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95292222..95663114hg38UCSC Ensembl
Innerchr14:95758559..96129451hg19UCSC Ensembl
Innerchr14:94828312..95199204hg18UCSC Ensembl
Innerchr14:94828312..95199204hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38370893
hg19370893
hg18370893
hg17370893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751289
Supporting Variants
SamplesBEC_632
Known GenesCLMN, GLRX5, LINC00341, SCARNA13, SNHG10, SYNE3, TCL6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983834
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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