A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422248



Internal ID1220014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94543833..94955318hg38UCSC Ensembl
Innerchr7:94173145..94584630hg19UCSC Ensembl
Innerchr7:94011081..94422566hg18UCSC Ensembl
Innerchr7:93817796..94229281hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38411486
hg19411486
hg18411486
hg17411486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161318
SamplesND01705
Known GenesCASD1, PEG10, PPP1R9A, SGCE
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422248
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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