A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783686



Internal ID19170978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..42961664hg38UCSC Ensembl
Innerchr19:43374601..43465816hg19UCSC Ensembl
Innerchr19:48066441..48157656hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3891216
hg1991216
hg1891216
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893214
Supporting Variants
Samples
Known GenesPSG1, PSG6, PSG7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783686
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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