A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894136



Internal ID19185205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13876554..14151689hg38UCSC Ensembl
Outerchr5:13876554..14151689hg38UCSC Ensembl
Innerchr5:13876663..14151798hg19UCSC Ensembl
Outerchr5:13876663..14151798hg19UCSC Ensembl
Innerchr5:13929663..14204798hg18UCSC Ensembl
Outerchr5:13929663..14204798hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38275136
hg19275136
hg18275136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788228
Samples
Known GenesDNAH5, TRIO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894136
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer