A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161537



Internal ID7906251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12448789..13127739hg38UCSC Ensembl
Innerchr9:12448789..13127738hg19UCSC Ensembl
Innerchr9:12438789..13117738hg18UCSC Ensembl
Innerchr9:12438789..13117738hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38678951
hg19678950
hg18678950
hg17678950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422212
Supporting Variants
SamplesND03071
Known GenesLURAP1L, MPDZ, TYRP1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161537
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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