A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422183



Internal ID8252966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101985180..102331263hg38UCSC Ensembl
Innerchr1:102450736..102796819hg19UCSC Ensembl
Innerchr1:102223324..102569407hg18UCSC Ensembl
Innerchr1:102162757..102508840hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38346084
hg19346084
hg18346084
hg17346084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161466
SamplesND04880
Known GenesMIR548AI, OLFM3
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422183
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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