A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673652



Internal ID9939757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45293798..45294704hg38UCSC Ensembl
chr13:45867933..45868839hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5479844, essv5578775, essv6560551, essv6317643, essv6587978, essv5750950, essv5610565, essv5697598, essv5416168, essv6477919, essv6469238, essv5602034
SamplesHG00142, HG00244, NA20805, NA12058, NA20806, NA20796, HG01167, HG00326, HG00731, HG01047, HG00146, HG00319
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673652
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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