A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34217



Internal ID12990256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100463200..100515885hg38UCSC Ensembl
Innerchr10:102222957..102275642hg19UCSC Ensembl
Innerchr10:102212947..102265632hg18UCSC Ensembl
Innerchr10:102212947..102265632hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3852686
hg1952686
hg1852686
hg1752686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987047, essv6980304
SamplesNA07029
Known GenesSEC31B, WNT8B
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)esv34217
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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