A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979806



Internal ID12634111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77610761..77833713hg38UCSC Ensembl
Innerchr10:79370519..79593471hg19UCSC Ensembl
Innerchr10:79040525..79263477hg18UCSC Ensembl
Innerchr10:79040525..79263477hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38222953
hg19222953
hg18222953
hg17222953
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979806
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer