A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793055



Internal ID19160641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42817913..43089269hg38UCSC Ensembl
Innerchr19:43322065..43593421hg19UCSC Ensembl
Innerchr19:48013905..48285261hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38271357
hg19271357
hg18271357
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 550
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793055
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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