A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788098



Internal ID19173440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42867142..43191688hg38UCSC Ensembl
Innerchr19:43371294..43695840hg19UCSC Ensembl
Innerchr19:48063134..48387680hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38324547
hg19324547
hg18324547
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893216
Supporting Variants
Samples
Known GenesPSG1, PSG11, PSG2, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788098
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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