A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788228



Internal ID19161456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13876554..14151689hg38UCSC Ensembl
Innerchr5:13876663..14151798hg19UCSC Ensembl
Innerchr5:13929663..14204798hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38275136
hg19275136
hg18275136
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894136
Supporting Variants
Samples
Known GenesDNAH5, TRIO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=141
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788228
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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