A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667811



Internal ID9933916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126534889..126535427hg38UCSC Ensembl
chr3:126253732..126254270hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5477471, essv5617572, essv5399844, essv5985702, essv6468247, essv5817132
SamplesHG01070, HG00530, HG00278, HG00319, NA19716, NA19676
Known GenesCHST13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667811
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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