A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161343



Internal ID7906057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32453592..32985359hg38UCSC Ensembl
Innerchr2:32678660..33210426hg19UCSC Ensembl
Innerchr2:32532164..33063930hg18UCSC Ensembl
Innerchr2:32590311..33122077hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38531768
hg19531767
hg18531767
hg17531767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422472
Supporting Variants
SamplesND03627
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161343
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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