A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656596



Internal ID9576015
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 StatusM
Merged Variants
Supporting Variantsessv6242081, essv5767243
SamplesHG00244, NA20517
Known GenesCSGALNACT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656596
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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