A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422284



Internal ID1220050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132604248..132708921hg38UCSC Ensembl
Innerchr12:133180834..133285507hg19UCSC Ensembl
Innerchr12:131690907..131795580hg18UCSC Ensembl
Innerchr12:131791184..131895857hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38104674
hg19104674
hg18104674
hg17104674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161513
SamplesND03355
Known GenesLRCOL1, P2RX2, POLE, PXMP2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422284
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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