A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422227



Internal ID7906324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42555274..43165333hg38UCSC Ensembl
Innerchr19:43059426..43669485hg19UCSC Ensembl
Innerchr19:47751266..48361325hg18UCSC Ensembl
Innerchr19:47751266..48361325hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38610060
hg19610060
hg18610060
hg17610060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e196
Supporting Variantsessv5161492
SamplesND01548
Known GenesCEACAM8, 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)esv2422227
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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