A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161316



Internal ID7906030
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 StatusS
Merged Variantsesv2422294
Supporting Variants
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)essv5161316
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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