A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13326385



Internal ID997954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129102193..129136657hg38UCSC Ensembl
chr8:130114439..130148903hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3834465
hg1934465
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618809
Supporting Variants
SamplesHG00623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13326385
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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