A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797259



Internal ID19161419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12227022..12407240hg38UCSC Ensembl
Innerchr5:12227134..12407352hg19UCSC Ensembl
Innerchr5:12280134..12460352hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38180219
hg19180219
hg18180219
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894126
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797259
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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