A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv15e196



Internal ID20123214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42487137..43165333hg38UCSC Ensembl
chr19:42991289..43669485hg19UCSC Ensembl
chr19:47683129..48361325hg18UCSC Ensembl
chr19:47683129..48361325hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38678197
hg19678197
hg18678197
hg17678197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422468, esv2422227
SamplesND01548, ND00940
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)dgv15e196
Frequency
Sample Size181
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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