A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422388



Internal ID7906485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55707094..55812437hg38UCSC Ensembl
Innerchr8:56619653..56724996hg19UCSC Ensembl
Innerchr8:56782207..56887550hg18UCSC Ensembl
Innerchr8:56782207..56887550hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38105344
hg19105344
hg18105344
hg17105344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161337
SamplesND04069
Known GenesTGS1, TMEM68
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422388
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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