A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422354



Internal ID8253137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53061542..53229251hg38UCSC Ensembl
Innerchr17:51138903..51306612hg19UCSC Ensembl
Innerchr17:48493902..48661611hg18UCSC Ensembl
Innerchr17:48493902..48661611hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38167710
hg19167710
hg18167710
hg17167710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161536
SamplesND05370
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422354
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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