A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791342



Internal ID19179968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12377064..12610667hg38UCSC Ensembl
Innerchr8:12234573..12468176hg19UCSC Ensembl
Innerchr8:12278944..12512547hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38233604
hg19233604
hg18233604
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891341
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791342
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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