A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422429



Internal ID8253212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17529868..17579053hg38UCSC Ensembl
Innerchr19:17640677..17689862hg19UCSC Ensembl
Innerchr19:17501677..17550862hg18UCSC Ensembl
Innerchr19:17501677..17550862hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3849186
hg1949186
hg1849186
hg1749186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161469
SamplesND05370
Known GenesCOLGALT1, FAM129C
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422429
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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