A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5976325



Internal ID8953728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19441532..19444485hg38UCSC Ensembl
chr8:19299043..19301996hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382954
hg192954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661905
Supporting Variants
SamplesNA19334
Known GenesCSGALNACT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5976325
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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