A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363839



Internal ID3212015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4958035..5079276hg38UCSC Ensembl
chr16:5008036..5129277hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38121242
hg19121242
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637714
Supporting Variants
SamplesHG02816
Known GenesALG1, C16orf89, NAGPA, NAGPA-AS1, SEC14L5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363839
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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