A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422482



Internal ID8253265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45173447..45266547hg38UCSC Ensembl
Innerchr19:45676705..45769805hg19UCSC Ensembl
Innerchr19:50368545..50461645hg18UCSC Ensembl
Innerchr19:50368545..50461645hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3893101
hg1993101
hg1893101
hg1793101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161521
SamplesND04274
Known GenesBLOC1S3, EXOC3L2, MARK4, TRAPPC6A
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422482
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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