A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322220



Internal ID6082415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127484802..127518472hg38UCSC Ensembl
chr8:128497047..128530717hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3833671
hg1933671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618775
Supporting Variants
SamplesNA19467
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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