A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893546



Internal ID19184366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48881718..49097909hg38UCSC Ensembl
Outerchr1:48881718..49097909hg38UCSC Ensembl
Innerchr1:49347390..49563581hg19UCSC Ensembl
Outerchr1:49347390..49563581hg19UCSC Ensembl
Innerchr1:49119977..49336168hg18UCSC Ensembl
Outerchr1:49119977..49336168hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38216192
hg19216192
hg18216192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782422
Samples
Known GenesAGBL4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893546
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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