A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161416



Internal ID7906130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:251718..404517hg38UCSC Ensembl
Innerchr19:251718..404517hg19UCSC Ensembl
Innerchr19:202718..355517hg18UCSC Ensembl
Innerchr19:202718..355517hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38152800
hg19152800
hg18152800
hg17152800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422333
Supporting Variants
SamplesND01666
Known GenesMIER2, PPAP2C, THEG
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161416
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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