A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15482317



Internal ID5484133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55798295..55830609hg38UCSC Ensembl
chr16:55832207..55864521hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3832315
hg1932315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638688
Supporting Variants
SamplesNA20351
Known GenesCES1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15482317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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