A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788354



Internal ID19178280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43039564..43174544hg38UCSC Ensembl
Innerchr19:43543716..43678696hg19UCSC Ensembl
Innerchr19:48235556..48370536hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38134981
hg19134981
hg18134981
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893213
Supporting Variants
Samples
Known GenesPSG2, PSG5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788354
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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