A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422326



Internal ID7906423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101190168..101356850hg38UCSC Ensembl
Innerchr7:100833449..101000131hg19UCSC Ensembl
Innerchr7:100620169..100786851hg18UCSC Ensembl
Innerchr7:100426884..100593566hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38166683
hg19166683
hg18166683
hg17166683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161511
SamplesND04296
Known GenesCLDN15, FIS1, MOGAT3, PLOD3, RABL5, ZNHIT1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422326
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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