A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797280



Internal ID18817511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47487260..47549961hg38UCSC Ensembl
Innerchr16:47521171..47583872hg19UCSC Ensembl
Innerchr16:46078672..46141373hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3862702
hg1962702
hg1862702
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892856
Supporting Variants
Samples
Known GenesPHKB
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797280
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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