A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422216



Internal ID8252999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89771154..90089175hg38UCSC Ensembl
Innerchr7:89400468..89718489hg19UCSC Ensembl
Innerchr7:89238404..89556425hg18UCSC Ensembl
Innerchr7:89045119..89363140hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38318022
hg19318022
hg18318022
hg17318022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161540
SamplesND04045
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422216
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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