A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15486701



Internal ID5488517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58011317..58046443hg38UCSC Ensembl
chr16:58045221..58080347hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3835127
hg1935127
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638717
Supporting Variants
SamplesNA19138
Known GenesMMP15, USB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15486701
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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