A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34689



Internal ID12644039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133376615..133609001hg38UCSC Ensembl
Innerchr10:135190119..135422505hg19UCSC Ensembl
Innerchr10:135040109..135272495hg18UCSC Ensembl
Innerchr10:135079000..135311386hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38232387
hg19232387
hg18232387
hg17232387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e55
Supporting Variantsessv6978732, essv6978733, essv6990278, essv6978731, essv6978734
SamplesNA12234
Known GenesCYP2E1, MTG1, PAOX, 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)esv34689
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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