A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14109652



Internal ID3007579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:42333093..42339592hg38UCSC Ensembl
Innerchr11:42333094..42339591hg38UCSC Ensembl
Outerchr11:42333092..42339593hg38UCSC Ensembl
chr11:42354643..42361142hg19UCSC Ensembl
Innerchr11:42354644..42361141hg19UCSC Ensembl
Outerchr11:42354642..42361143hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626109
Supporting Variants
SamplesHG02651
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14109652
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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