A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422471



Internal ID7906568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42228989..43165333hg38UCSC Ensembl
Innerchr19:42733141..43669485hg19UCSC Ensembl
Innerchr19:47424981..48361325hg18UCSC Ensembl
Innerchr19:47424981..48361325hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38936345
hg19936345
hg18936345
hg17936345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161412
SamplesND04178
Known GenesCEACAM1, CEACAM8, CIC, CNFN, CXCL17, ERF, GSK3A, LIPE, LIPE-AS1, LOC100289650, MEGF8, MIR8077, PAFAH1B3, PRR19, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8, TMEM145
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422471
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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