A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750869



Internal ID12637735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133392850..133574363hg38UCSC Ensembl
Innerchr10:135206354..135387867hg19UCSC Ensembl
Innerchr10:135056344..135237857hg18UCSC Ensembl
Innerchr10:135095235..135276748hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38181514
hg19181514
hg18181514
hg17181514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e55
Supporting Variantsessv6988754, essv6984096, essv6984097
SamplesBEC_774
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750869
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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