A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422471



Internal ID3031748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42733141..43669485hg19UCSC Ensembl
Innerchr19:47424981..48361325hg18UCSC Ensembl
Innerchr19:47424981..48361325hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161412
SamplesND04178
Known GenesCEACAM1, CEACAM8, CIC, CNFN, CXCL17, ERF, GSK3A, LIPE, LOC100289650, MEGF8, PAFAH1B3, PRR19, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8, TMEM145
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
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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