A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637709



Internal ID7024498
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363833, essv15363825, essv15363822, essv15363826, essv15363827, essv15363819, essv15363828, essv15363831, essv15363821, essv15363834, essv15363830, essv15363832, essv15363824, essv15363820, essv15363829, essv15363823
SamplesNA11830, HG01521, HG01602, HG01389, NA20512, NA12045, HG01682, HG00369, HG01628, NA12889, NA20904, NA20770, NA12234, NA19735, HG00136, NA19661
Known GenesGLYR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637709
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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