A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779502



Internal ID19178721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:174915698..175060424hg38UCSC Ensembl
Innerchr3:174633488..174778214hg19UCSC Ensembl
Innerchr3:176116182..176260908hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38144727
hg19144727
hg18144727
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893818
Supporting Variants
Samples
Known GenesNAALADL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779502
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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