A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6242081



Internal ID9219484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19676139..19676728hg38UCSC Ensembl
chr8:19533650..19534239hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656596
Supporting Variants
SamplesHG00244
Known GenesCSGALNACT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6242081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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