A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5778215



Internal ID9124782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48742588..48754715hg38UCSC Ensembl
chr8:49655147..49667274hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3812128
hg1912128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666666
Supporting Variants
SamplesHG01140
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5778215
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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