A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784641



Internal ID18835550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165596587..166056006hg38UCSC Ensembl
Innerchr3:165314375..165773794hg19UCSC Ensembl
Innerchr3:166797069..167256488hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38459420
hg19459420
hg18459420
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893808
Supporting Variants
Samples
Known GenesBCHE
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=89
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784641
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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