A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750875



Internal ID12637741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133574615hg38UCSC Ensembl
Innerchr10:135269955..135388119hg19UCSC Ensembl
Innerchr10:135119945..135238109hg18UCSC Ensembl
Innerchr10:135158836..135277000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38118165
hg19118165
hg18118165
hg17118165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989354, essv6983229, essv6983230, essv6989759
SamplesBEC_558
Known GenesCYP2E1, SCART1, 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)esv2750875
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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