A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626113



Internal ID7012947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:42421606..42494999hg38UCSC Ensembl
Innerchr11:42421756..42494849hg38UCSC Ensembl
Outerchr11:42421456..42495149hg38UCSC Ensembl
chr11:42443156..42516549hg19UCSC Ensembl
Innerchr11:42443306..42516399hg19UCSC Ensembl
Outerchr11:42443006..42516699hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3873394
hg1973394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194e214
Supporting Variantsessv14109696, essv14109695
SamplesHG01031, HG02075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626113
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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