A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796905



Internal ID18814776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54906374..55000768hg38UCSC Ensembl
Innerchr19:55417731..55512136hg19UCSC Ensembl
Innerchr19:60109543..60203948hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3894395
hg1994406
hg1894406
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893250
Supporting Variants
Samples
Known GenesNCR1, NLRP2, NLRP7, RNU6-35P, RNU6-64P
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796905
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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