A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789602



Internal ID19164355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4310710..4448050hg38UCSC Ensembl
Innerchr17:4214005..4351345hg19UCSC Ensembl
Innerchr17:4160754..4298094hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38137341
hg19137341
hg18137341
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892955
Supporting Variants
Samples
Known GenesSPNS3, UBE2G1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789602
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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