A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422283



Internal ID7906380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31069845..31107058hg38UCSC Ensembl
Innerchr12:31222779..31259992hg19UCSC Ensembl
Innerchr12:31114046..31151259hg18UCSC Ensembl
Innerchr12:31114046..31151259hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3837214
hg1937214
hg1837214
hg1737214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161375
SamplesND01613
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422283
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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