A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800997



Internal ID19167871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55534155..55554797hg38UCSC Ensembl
Innerchr19:56045522..56066163hg19UCSC Ensembl
Innerchr19:60737334..60757975hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3820643
hg1920642
hg1820642
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893252
Supporting Variants
Samples
Known GenesSBK2, SBK3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800997
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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