A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787837



Internal ID18829622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129823851..130151212hg38UCSC Ensembl
Innerchr5:129159544..129486905hg19UCSC Ensembl
Innerchr5:129187443..129514804hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38327362
hg19327362
hg18327362
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890736
Supporting Variants
Samples
Known GenesCHSY3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787837
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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