A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472407



Internal ID5474223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47223909..47452484hg38UCSC Ensembl
Innerchr16:47223959..47452434hg38UCSC Ensembl
Outerchr16:47223859..47452534hg38UCSC Ensembl
chr16:47257820..47486395hg19UCSC Ensembl
Innerchr16:47257870..47486345hg19UCSC Ensembl
Outerchr16:47257770..47486445hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38228576
hg19228576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638550
Supporting Variants
SamplesHG02375
Known GenesITFG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472407
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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