A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174771



Internal ID1922429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59732943..59734424hg38UCSC Ensembl
Innerchr11:59733093..59734274hg38UCSC Ensembl
Outerchr11:59732793..59734574hg38UCSC Ensembl
chr11:59500416..59501897hg19UCSC Ensembl
Innerchr11:59500566..59501747hg19UCSC Ensembl
Outerchr11:59500266..59502047hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626540
Supporting Variants
SamplesHG01797
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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