A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422468



Internal ID7906565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42487137..43164875hg38UCSC Ensembl
Innerchr19:42991289..43669027hg19UCSC Ensembl
Innerchr19:47683129..48360867hg18UCSC Ensembl
Innerchr19:47683129..48360867hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38677739
hg19677739
hg18677739
hg17677739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e196
Supporting Variantsessv5161449
SamplesND00940
Known GenesCEACAM1, CEACAM8, LIPE-AS1, LOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422468
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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