A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788045



Internal ID18826391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116409243..116721198hg38UCSC Ensembl
Innerchr3:116128090..116440045hg19UCSC Ensembl
Innerchr3:117610780..117922735hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38311956
hg19311956
hg18311956
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893770
Supporting Variants
Samples
Known GenesLSAMP, TUSC7
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=76
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788045
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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