A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422385



Internal ID7906482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54575263..54747293hg38UCSC Ensembl
Innerchr19:55086730..55258745hg19UCSC Ensembl
Innerchr19:59778542..59950557hg18UCSC Ensembl
Innerchr19:59778542..59950557hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38172031
hg19172016
hg18172016
hg17172016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e196
Supporting Variantsessv5161370
SamplesND05027
Known GenesKIR2DL3, KIR3DL3, LILRA1, LILRA2, LILRB1, LILRB4, LILRP2, MIR8061
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422385
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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