A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983229



Internal ID12628356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133574363hg38UCSC Ensembl
Innerchr10:135269955..135387867hg19UCSC Ensembl
Innerchr10:135119945..135237857hg18UCSC Ensembl
Innerchr10:135158836..135276748hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38117913
hg19117913
hg18117913
hg17117913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750875
Supporting Variants
SamplesBEC_558
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983229
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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