A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750871



Internal ID12637737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133392850..133619181hg38UCSC Ensembl
Innerchr10:135206354..135432685hg19UCSC Ensembl
Innerchr10:135056344..135282675hg18UCSC Ensembl
Innerchr10:135095235..135321566hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38226332
hg19226332
hg18226332
hg17226332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e55
Supporting Variantsessv6986362, essv6983186, essv6983187
SamplesBEC_552
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)esv2750871
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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