A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750870



Internal ID12637736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133392850..133609001hg38UCSC Ensembl
Innerchr10:135206354..135422505hg19UCSC Ensembl
Innerchr10:135056344..135272495hg18UCSC Ensembl
Innerchr10:135095235..135311386hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38216152
hg19216152
hg18216152
hg17216152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e55
Supporting Variantsessv6982294, essv6986135, essv6982295
SamplesBEC_414
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750870
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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