A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363818



Internal ID5365634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4824434..4827162hg38UCSC Ensembl
Innerchr16:4824440..4827156hg38UCSC Ensembl
Outerchr16:4824428..4827168hg38UCSC Ensembl
chr16:4874435..4877163hg19UCSC Ensembl
Innerchr16:4874441..4877157hg19UCSC Ensembl
Outerchr16:4874429..4877169hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637708
Supporting Variants
SamplesNA12383
Known GenesGLYR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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