A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161469



Internal ID8252953
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 StatusS
Merged Variantsesv2422429
Supporting Variants
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)essv5161469
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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