A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161273



Internal ID8252788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:554629..708009hg38UCSC Ensembl
Innerchr2:554629..708009hg19UCSC Ensembl
Innerchr2:544629..698009hg18UCSC Ensembl
Innerchr2:544629..698009hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38153381
hg19153381
hg18153381
hg17153381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422321
Supporting Variants
SamplesND03355
Known GenesTMEM18
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161273
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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