A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161283



Internal ID7905997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31066013..31129217hg38UCSC Ensembl
Innerchr12:31218947..31282151hg19UCSC Ensembl
Innerchr12:31110214..31173418hg18UCSC Ensembl
Innerchr12:31110214..31173418hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863205
hg1963205
hg1863205
hg1763205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422453
Supporting Variants
SamplesND05370
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)essv5161283
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer