A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669515



Internal ID9588934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22345419..22348055hg38UCSC Ensembl
chr8:22202932..22205568hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833014, essv6132637, essv5590713
SamplesHG00254, NA20760, NA11892
Known GenesPIWIL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669515
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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