A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792481



Internal ID19172225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42821910..43142978hg38UCSC Ensembl
Innerchr19:43326062..43647130hg19UCSC Ensembl
Innerchr19:48017902..48338970hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38321069
hg19321069
hg18321069
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893216
Supporting Variants
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=51
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792481
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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