A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161342



Internal ID7906056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30801877..31296881hg38UCSC Ensembl
Innerchr12:30954811..31449815hg19UCSC Ensembl
Innerchr12:30846078..31341082hg18UCSC Ensembl
Innerchr12:30846078..31341082hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38495005
hg19495005
hg18495005
hg17495005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422447
Supporting Variants
SamplesND03704
Known GenesDDX11, DDX11-AS1, FAM60A, LINC00941, TSPAN11
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161342
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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