A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979807



Internal ID12634108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77618749..77824098hg38UCSC Ensembl
Innerchr10:79378507..79583856hg19UCSC Ensembl
Innerchr10:79048513..79253862hg18UCSC Ensembl
Innerchr10:79048513..79253862hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38205350
hg19205350
hg18205350
hg17205350
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)essv6979807
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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