A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15512449



Internal ID5514265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71336107..71403133hg38UCSC Ensembl
chr16:71370010..71437036hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3867027
hg1967027
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638971
Supporting Variants
SamplesHG03452
Known GenesCALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15512449
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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