A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422500



Internal ID7906597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:9914452..10321660hg38UCSC Ensembl
Innerchr16:10008309..10415517hg19UCSC Ensembl
Innerchr16:9915810..10323018hg18UCSC Ensembl
Innerchr16:9915810..10323018hg17UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38407209
hg19407209
hg18407209
hg17407209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161374
SamplesND03587
Known GenesGRIN2A
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422500
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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