A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472419



Internal ID5474235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47321705..47462945hg38UCSC Ensembl
chr16:47355616..47496856hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38141241
hg19141241
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638556
Supporting Variants
SamplesHG02375
Known GenesITFG1, PHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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