A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15474431



Internal ID4852431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48639342..48641137hg38UCSC Ensembl
Innerchr16:48639342..48641137hg38UCSC Ensembl
Outerchr16:48639230..48641325hg38UCSC Ensembl
chr16:48673253..48675048hg19UCSC Ensembl
Innerchr16:48673253..48675048hg19UCSC Ensembl
Outerchr16:48673141..48675236hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638581
Supporting Variants
SamplesNA12273
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15474431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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