A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979228



Internal ID12633166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133587014hg38UCSC Ensembl
Innerchr10:135269955..135400518hg19UCSC Ensembl
Innerchr10:135119945..135250508hg18UCSC Ensembl
Innerchr10:135158836..135289399hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38130564
hg19130564
hg18130564
hg17130564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34512
Supporting Variants
SamplesNA18515
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979228
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