A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15475620



Internal ID5624333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50429129..50466859hg38UCSC Ensembl
Innerchr16:50429279..50466709hg38UCSC Ensembl
Outerchr16:50428979..50467009hg38UCSC Ensembl
chr16:50463040..50500770hg19UCSC Ensembl
Innerchr16:50463190..50500620hg19UCSC Ensembl
Outerchr16:50462890..50500920hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3837731
hg1937731
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638606
Supporting Variants
SamplesNA19055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15475620
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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