A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161422



Internal ID7906136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27479927..27623674hg38UCSC Ensembl
Innerchr17:25806953..25950700hg19UCSC Ensembl
Innerchr17:22831080..22974827hg18UCSC Ensembl
Innerchr17:22831080..22974827hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38143748
hg19143748
hg18143748
hg17143748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422193
Supporting Variants
SamplesND04019
Known GenesKSR1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161422
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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