A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986951



Internal ID12634114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77618736..77824136hg38UCSC Ensembl
Innerchr10:79378494..79583894hg19UCSC Ensembl
Innerchr10:79048500..79253900hg18UCSC Ensembl
Innerchr10:79048500..79253900hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38205401
hg19205401
hg18205401
hg17205401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34251
Supporting Variants
SamplesNA18633
Known GenesDLG5, KCNMA1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986951
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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