A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788537



Internal ID19169253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120687698..120883645hg38UCSC Ensembl
Innerchr5:120023393..120219340hg19UCSC Ensembl
Innerchr5:120051292..120247239hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38195948
hg19195948
hg18195948
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890728
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788537
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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