A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441237



Internal ID5443053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28824146..28839056hg38UCSC Ensembl
chr16:28835467..28850377hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814911
hg1914911
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638345
Supporting Variants
SamplesHG00178
Known GenesATXN2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441237
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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