A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422294



Internal ID7906391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17201331..17452219hg38UCSC Ensembl
Innerchr7:17240955..17491843hg19UCSC Ensembl
Innerchr7:17207480..17458368hg18UCSC Ensembl
Innerchr7:17014195..17265083hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38250889
hg19250889
hg18250889
hg17250889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161316
SamplesND04531
Known GenesAHR
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422294
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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