A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472482



Internal ID6352295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47901955..47903603hg38UCSC Ensembl
Innerchr16:47901967..47903592hg38UCSC Ensembl
Outerchr16:47901944..47903615hg38UCSC Ensembl
chr16:47935866..47937514hg19UCSC Ensembl
Innerchr16:47935878..47937503hg19UCSC Ensembl
Outerchr16:47935855..47937526hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381649
hg191649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638570
Supporting Variants
SamplesNA20281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472482
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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