A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422248



Internal ID3031725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94173145..94584630hg19UCSC Ensembl
Innerchr7:94011081..94422566hg18UCSC Ensembl
Innerchr7:93817796..94229281hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161318
SamplesND01705
Known GenesCASD1, PEG10, PPP1R9A, SGCE
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
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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