A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161483



Internal ID7906197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32187261..32975514hg38UCSC Ensembl
Innerchr2:32412330..33200581hg19UCSC Ensembl
Innerchr2:32265834..33054085hg18UCSC Ensembl
Innerchr2:32323981..33112232hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38788254
hg19788252
hg18788252
hg17788252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422335
Supporting Variants
SamplesND05052
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, NLRC4, SLC30A6, TTC27, YIPF4
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161483
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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