A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363830



Internal ID6126844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4828169..4829757hg38UCSC Ensembl
Innerchr16:4828169..4829757hg38UCSC Ensembl
Outerchr16:4827843..4830041hg38UCSC Ensembl
chr16:4878170..4879758hg19UCSC Ensembl
Innerchr16:4878170..4879758hg19UCSC Ensembl
Outerchr16:4877844..4880042hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381589
hg191589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637709
Supporting Variants
SamplesNA19661
Known GenesGLYR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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