A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990440



Internal ID12634518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456615..133562615hg38UCSC Ensembl
Innerchr10:135270119..135376119hg19UCSC Ensembl
Innerchr10:135120109..135226109hg18UCSC Ensembl
Innerchr10:135159000..135265000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38106001
hg19106001
hg18106001
hg17106001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34442
Supporting Variants
SamplesNA18948
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990440
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