A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15486699



Internal ID5488515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58007762..58044752hg38UCSC Ensembl
chr16:58041666..58078656hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3836991
hg1936991
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638715
Supporting Variants
SamplesNA19138
Known GenesMMP15, USB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15486699
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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