A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15390670



Internal ID5392486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17279068..17409489hg38UCSC Ensembl
chr16:17372925..17503346hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38130422
hg19130422
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638074
Supporting Variants
SamplesHG03890
Known GenesXYLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15390670
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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