A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750854



Internal ID12984406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133370615..133621047hg38UCSC Ensembl
Innerchr10:135184119..135434551hg19UCSC Ensembl
Innerchr10:135034109..135284541hg18UCSC Ensembl
Innerchr10:135073000..135323432hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38250433
hg19250433
hg18250433
hg17250433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e55
Supporting Variantsessv6981692, essv6981691, essv6985643, essv6985642, essv6988438
SamplesBEC_32
Known GenesCYP2E1, ECHS1, MIR3944, 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)esv2750854
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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