A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986962



Internal ID12634174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463150..133558806hg38UCSC Ensembl
Innerchr10:135276654..135372310hg19UCSC Ensembl
Innerchr10:135126644..135222300hg18UCSC Ensembl
Innerchr10:135165535..135261191hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3895657
hg1995657
hg1895657
hg1795657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750882
Supporting Variants
SamplesNA18853
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986962
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